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Class of medicines used to treat high blood pressure and other diseases.
A functioning plasma protein that works in the coagulation pathway to help form a clot.
Also referred to as attenuated androgen, a class of steroid hormones used to prevent HAE attacks. Although their mechanism of action in HAE patients is unknown, these agents are believed to partially reverse the biochemical defect by increasing levels of C1-esterase inhibitor (C1-INH), helping to prevent angioedema attacks in patients with inherited C1-INH deficiency.
Medicines used to prevent HAE attacks. These agents inhibit the activation of plasmin, a chemical in the blood that can make the C1-INH less effective.
Also referred to as anabolic steroid, a class of steroid hormones used to prevent HAE attacks. Although their mechanism of action in HAE patients is unknown, these agents are believed to partially reverse the biochemical defect by increasing levels of C1-esterase inhibitor (C1-INH), helping to prevent angioedema attacks in patients with inherited C1-INH deficiency.
A protein, which when released, causes blood vessels to expand (dilate) and leak fluid, such as serum, into surrounding tissue.
Also referred to as C1-INH, a protein found in the fluid part of your blood that controls C1, a component of your body's complement system. Abnormal swelling can result when C1-INH is insufficient or defective.
Also referred to as C1 inhibitor, a protein found in the fluid part of your blood that controls C1, a component of your body's complement system. Abnormal swelling can result when C1-INH is insufficient or defective.
To cut; to split
A process in which blood cells work together to form a clot.
The complement system is made up of proteins like C1 that float in your bloodstream, which work with the immune system to fight organisms like bacteria, viruses and parasites.
A list of prescription medications selected for coverage under a health insurance plan.
Swelling caused by an excessive amount of fluid in the body tissues.
A thin layer of cells that line the surface of blood vessels.
A protein that changes the rate of chemical reactions in the body.
HAE, or Hereditary Angioedema, is a rare, hereditary disease of the immune system that affects an estimated 1 in 10,000 to 1 in 50,000 adults and children globally. HAE causes attacks of spontaneous swelling that are often painful and severe, and can be life-threatening.
A rare, hereditary disease of the immune system that affects an estimated 1 in 10,000 to 1 in 50,000 adults and children globally. Hereditary Angioedema (HAE) causes attacks of spontaneous swelling that are often painful and severe, and can be life-threatening.
HMWK, a protein that acts on the inflammation and coagulation processes; inactive until it is cleaved by kallikrein and in turn, releases bradykinin.
Low blood pressure.
A process in which the body responds to an injury either inside or outside of the body.
That which reduces, prevents or stops; i.e. a substance that stops enzyme activity.
A system of proteins in the blood that has a role in the inflammatory pathway; through this system, bradykinin is released.
A protein that is a component of the kallikrein-kinin system.
An HAE attack that affects the larynx (throat); this can block or close the airway, leading to difficulty breathing and, potentially, death.
An enzyme present in blood plasma, urine and tissue; responsible for cleaving high-molecular-weight kininogen (HMWK), which then releases bradykinin.
Precursor to kallikrein; inactive until it cleaved by activated factor (specifically, activated factor XII) to generate active kallikrein.
In HAE, medicine taken to prevent attacks.
One or more physical warnings of an HAE attack; can appear as a rash or a feeling of skin tightness.
An enzyme that breaks proteins down into a simpler form.
A step-by-step process in which proteins are broken down into simpler forms.
A component in a cell that can combine with a drug or a chemical in the body (i.e. hormone) to change the function of the cell.
The clear, watery, fluid-component of blood that resembles fluid in a blister.
Beneath the skin.
A molecule or substance acted upon by an enzyme.
In HAE, something that causes an attack. Stress and trauma are two common HAE attack triggers.
The capacity of blood vessels to allow fluids or molecules to pass in and out of the vessel.
A substance that opens, or dilates, blood vessels; e.g. bradykinin and nitric oxide.
HAE expert is here to answer your questions about hereditary angioedema.
Please note that not all questions submitted in the Ask the Expert feature of the HAE Hope website can be answered. The information contained on this website is not intended as a substitute for professional medical advice, diagnosis, or treatment. If you have any questions regarding your medical condition, seek the advice of your physician or other qualified healthcare provider. Never disregard professional medical advice or delay in seeking it because of information found on this website.
My daughter age 16 was diagnosed with HAE approximately 2 years ago. She has suffered from abdominal attacks, leg swellings and esophageal swellings. She is currently on C1-INH IV infusions every 4 days. The medication as at most part kept her attacks under control. However, tonight she has been complaining of severe back pain with swelling along her lower back. Could this be an HAE attack. Thank you.
Yes, skin (cutaneous) swelling in HAE can involve any part of the body and it sounds like she is having swelling of the back.
I am wondering what happens to my blood after I receive the c1 inhibitor from the hospital? Is the c1 inhibitor like a temporary jump start to my immune system to relieve the attack? Does the protein count in my blood differ before and after I receive the c1 inhibitor?
The C1 inhibitor just helps replace some of the C1-inhibitor your body lacks (or that doesn’t work). People with HAE usually have 1 gene that codes for normal C1-inhibitor and one that doesn’t so they have low levels of C1-inhibitor already in their blood. It turns out that C1-inhibitor is only a small contributor to the total level of protein in the blood so an infusion doesn’t make a big difference in total blood protein levels.
Hi, I have been experiencing HAE episodes since 2008. At first they diagnosed me with SLE Lupus. The most debilitating part of my symptoms are the abdomen attacks!! They are extremely painful and they involve nausea and vomiting and I vomit to the point that I'm dehydrated and throwing up bile. I'm in and out of the hospital constantly. The scans show swelling in the lining of my stomach and some fluid. My lips swell to a point of deformation and it is embarrassing!! The swelling tends to go away on its own and it takes about 24-48 hrs., but I still have to call in because of the embarrassment on how I look when I'm having an episode. I also notice that when I'm on my period, the episodes get worse!!! I also brake out in hives, like rash on my arms and torso, but it’s never itchy! Benadryl does not seem to help at all. My question is, if I can somehow stop my period could this minimize or possibly eliminate my symptoms?? Thanks.
It is not unusual for menstruation to be associated with attacks in women with HAE. Unfortunately, in the one study I’m aware of, menopause actually led to an increase in symptoms more frequently than it decreased them. One thing to consider is that progesterone only contraceptive pills can improve symptoms in many women with HAE.
Hello, my wife has HAE and was treated with danazol pills (one pill every 2 days) and had good results as they almost eliminated HAE attacks. Now we want to have a baby and danazol must be discontinued. She stopped taking it, and after 2 weeks HAE attacks begun. Mild swellings in different places of the body. We in day 5 now, every day she had a swelling in some body part, although all attacks are mild until now. The problem is that this never happened before danazol, she had like 1 severe attack each month and that was it. This change in HAE attacks pattern might be because of stopping danazol? If yes, is there any clue how long it will last? Thanks for your time.
Yes, the increase in HAE attacks is almost certainly due to stopping the danazol. While danzaol is effective in preventing attacks in many HAE patients it cannot be used in women who are pregnant or might become pregnant because it can cause damage to the developing fetus. There are other more recently FDA approved medicines your wife could use to prevent and/or treat HAE attacks and she could discuss these with her doctor. If your wife’s doctor is not aware of the new HAE medications, please contact www.HAEA.org to connect with an HAE specialist in your area or to learn more about available HAE treatments.
I have Type 3 HAE and to date, all my attacks are abdominal and esophageal. Two questions- first, it seems like the severe attacks I get are getting more severe, less preventable, and closer together. Is there any data to suggest HAE is a progressive disease? Second question, in a severe attack, I get so weak and breathing becomes so hard that I eventually get numbness in my hands and then its simply too hard to move my arms, legs, hands or feet. Typically this immobility is the first symptom and lasts about 20 minutes. My last attack, this immobility lasted for four hours. I *assume* based on my reading that this is "hypovolemia" or decreased blood plasma volume. Is that correct? Any other reason this could be happening?
For type I and II HAE (those with decreased C1-INH levels) patients generally have less attacks during childhood then the number and severity of attacks increases during adolescence. The pattern of attacks established in adolescence typically continues into adulthood. However, it is common for the HAE to get better or worse for a period of time without any clear reason. Specific medicines like estrogens and ACE-inhibitors along with stress can worsen HAE. Less is known about HAE with normal C1-INH (type III HAE) but it does seem like symptoms can change without a clear reason why. 2. This would not be a typical symptom of low blood volume (hypovolemia). The amount of fluid lost from the plasma during an HAE attack is not usually enough to cause this. If you are anxious or nervous about an attack (certainly a normal reaction!) you may be breathing faster and deeper and hyperventilating. This can cause tingling of the extremities but not usually inability to move. Immobility is not typically a symptom of HAE except for avoiding movement because of the pain, so I would definitely discuss with your doctor.
I have been living with HAE for about 6 years. I am currently 24 years old. My attacks are about once a month, which is reduced as I am taking 200MG of Danazol every two days. I had to start this medication about 2 years ago and since I have been on this medication I do feel dizzy from time to time. Is this normal? I have had an MRI on my brain and they confirmed everything looked normal.
Dizziness is not a typical side effect of Danazol and the normal MRI is reassuring. Are you sure Danazol is the cause of the dizziness? You might discuss with your doctor stopping it to make sure the Danazol is the cause. There are other medicines that can help decrease HAE attacks you could use instead.
I am 48 years old, female. I had an allergic reaction to azithromycin (for strep throat). Several days later I started having facial swelling (area under bottom lip) shortly after eating. It didn't matter what I ate, my face always swelled. I also developed gastro troubles that lasted for several days. The facial swelling seemed to respond to Benadryl. The first swelling seemed to be the worst as my eye lids also swelled but I had taken 2 Advil for neck pain about an hour earlier. My allergist does not believe I am having an allergic reaction to any foods (I showed her pictures of my face swelling). I also get a tickle in my throat. The swelling does go away rather quickly only to come back again. Does this sound like HAE? I am getting worried and anxious about the whole thing and I don't know whether I am bringing on my own attacks. Pam
It would be unusual, but not impossible for HAE to first present at this age. The fact that Benadryl helped would be more in favor of an allergic reaction than HAE. Patients can have allergic reactions to both azithromycin and ibuprofen (advil) so that would be something to discuss with your doctor. These reactions can linger so you may just need time for things to return to normal.
I have been having a lot of medical problems. My C1 was extremely low, but my CH50 was extremely high and my C1 function test was extremely high. My doctor thinks I have HAE and a wheat allergy. My deal is I get sick every time I eat no matter what it is. What does an attack of the stomach feel like when it happens?
This is a confusing history. Patients with type I and type II HAE typically have very low C1-Inhibitor function, not high. I’m not aware of any condition associated with high C1-INH activity, in fact. While patients with HAE can have abdominal attacks, they aren’t typically triggered by eating, especially all foods. Reactions to gluten, including celiac disease and non-celiac gluten sensitivity can cause GI symptoms but typically related to gluten ingestion. Wheat allergy is distinct from gluten sensitivity and celiac disease but typically only causes symptoms when wheat is ingested. Hope that helps.
I have had many episodes but the last one really scared me. I had taken Benadryl and had to use the EpiPen and was actually in the ER with respiratory [issues]. The ER stretchers are not comfortable and I tried to raise one leg for comfort. Neither of my legs would work. My feet were fine and moveable but my legs would not. This lasted 45 minutes. The staff paid little or no attention to this, which will not happen again. I will raise some cane. Any ideas?
It sounds like an unusual presentation for an HAE attack. Being unable to move a body part, as opposed to it being just very painful to move it, would suggest a neurological (i.e. brain or other part of the nervous system) cause. I’d discuss with your primary care doctor.
My attacks only happen when I am sleeping. I wake up to severe facial swelling. Is this normal?
While not typical, some patients do tend to have attacks at night for reasons that are not understood.
My daughter and I have both been diagnosed with HAE type 3. Both of us have constant swelling. My swellings have improved slightly with medrol and aspirin. I was also diagnosed with hypertension that responds to steroids and it is also believed that HAE is irritating my aortic wall. Could this be HAE or something else??? I've had several other tests done that all came back normal and my daughter has the same exact swelling and symptoms that I do and she is 14 years old. How much inflammation is involved in these swellings?
Typically we don’t think of HAE as causing inflammation and HAE doesn’t typically involve blood vessels (except that it makes them leaky, leading to the characteristic swelling). There are rare rheumatololgic diseases that can cause inflammation of the aorta and other large vessels so you should discuss this with your physician.
Hello Dr. MacGinnitie,
I am a 51 year old male who has had AE attacks since I was 13. I don't think it's HAE. I was told as a teen that it wasn't, though they didn't say how they knew. The attacks are not as serious as I read on here either.
My question is about the impact of swelling internally. If my esophagus, for example, swells over and over again, is there any long term damage that I should be concerned about? Thank you.
Probably not. Patients with HAE (and by extension, probably other forms of angioedema) seem to make complete recovery once attacks are over without a substantial risk of unrecognized complications. Testing has progressed since you were a teenager, so you might consider getting tested again for HAE just to make sure.
It is suspected that I have hereditary angioedema type 3 after all my c1-esterase test levels came back within normal ranges. The doctor has suggested that I take danazol, which is not very appealing or have an oopherosalpingectomy, which is even less appealing. Although at age 43 it is unlikely I will have children, that thought of taking androgens or having surgery and putting myself into menopause is very distressing. I believe that I wouldn't be able to take hormone replacement therapy because of the estrogen. What can I do? My first attacks were in 2007 and were very sporadic. Now I have had four attacks in the past 3 months.
This is a difficult issue, as treatments for HAE with normal C1-inhibitior (the new name for Type III HAE) are not well studied. Progesterone-only oral contraceptives work well for some women with HAE with normal C1-inhibitor and are more appealing than androgens or surgery. Antifibrinolytic medications like tranexamic acid can also be effective. Finally, newer drugs for HAE like purified C1-INH, ecallantide and icatibant seem to be effective, although no double-blind randomized trials have been conducted.
I am a healthcare provider; I have a 43 year old patient with severe HAE, who has failed virtually every treatment option; she continues to be symptomatic at least 2-3 days per week, with swelling of face, extremities, but especially abdominal symptoms. She is in the Emergency Room 1-2 times a month, each time with documented swelling. My question is this; we are currently treating her with Percocet, which seems to be the only medication that controls her as an outpatient. How often do severe HAE patients need narcotics to control pain? I am concerned that she now needs several doses daily to control her, which has been escalating, yet real pain continues. If we can't control her disease, do we have any other options? Thanks.
It is very unusual for patients with HAE to not respond to the newer therapies (C1-inhibitor, ecallantide, icatibant) and a patient with such severe symptoms despite these therapies would lead me to revisit the diagnosis. One possibility would be that the patient’s angioedema is histamine, not bradykinin mediated, but there is unfortunately no test for that. High dose antihistamines can be effective for histamine-mediated angioedema and other medicines could also be considered.
I have Hereditary Angioedema (HAE) and have had many attacks, but last week I started having seizures and swelling on the right side of my face disfiguring me somewhat. The hospital kept me in Intensive Care Unit (ICU) for 6 days I was given many different drugs. At the day of my release, the doctor came in and told me I had nothing medically wrong except HAE and said to seek mental help. I was so upset and confused … What should I be doing to help myself regain my life back?
I am sorry to hear you are having such issues. Seizures are not typically associated with HAE, which typically involves swelling of the skin, intestines and airway. There have been some patients with neurologic symptoms, especially headaches, but those are thought to be rare. While I don't have all the information about your case, you should let the doctors involved know that HAE can cause neurologic issues and prompt treatment may help.
I was diagnosed with HAE in 2007. I was told I need to have surgery for a perforated eardrum. Do I need medication before surgery to avoid an attack?
Depending on the surgery, it is often advisable to use a medicine beforehand to help prevent HAE attacks. Previously, prior to surgery, patients could receive fresh frozen plasma, which contains C1 inhibitor, the protein that is lacking in HAE. Now that purified C1 inhibitor is available, many HAE specialists are using this treatment prior to surgery to help prevent attacks. I recommend consulting with an HAE specialist to discuss preparation for your specific surgery, including prophylactic options.
I was diagnosed with HAE in November of 2011 and have been on Cinrzye (2 infusions per week) since then. My doctor just switched me to Berinert because the Cinryze wasn't helping (same prescription, twice a week infusions). Plus I'm taking Firazyr for any in between swellings. I have a question. I am swollen almost everyday even with the infusions. Whether it be my feet (almost every day), legs (almost every day) both legs swell at the same time from my knees to my upper thighs, abdomen (happens about twice a month) or my throat (extreme difficulty swallowing/eating food/cheeks get puffy). Is this common for HAE patients? Or is there something else that could be causing this? I'm frustrated with the constant leg swelling (never swollen in the calves or shins) and the throat issues (affecting my daily life). My lymph nodes on the right side of my throat constantly swell up and then go back down too. Do you have any advice on where to go from here? In November of 2011 my C1 esterase levels were 1 point below normal. All the other levels were normal. I tested again last month and all the levels were normal so I'm confused. My family also was tested and their blood results all came back normal as well. I noticed the bad leg swelling after pregnancy where my upper thighs, knees and feet where 3 times their size. Confused, frustrated, and would love to hear back with any advice. Thanks.
It is very unusual for patients with HAE to have continual swelling. Typically patients have acute attacks with intervening periods without symptoms, although some patients can have very frequent attacks. You note that at one point your C1-inhibitor (C1-INH) level was slightly low but at another time it was normal and other testing has been normal. Again, this is unusual for type I HAE as C1-INH levels are consistently low. Finally, HAE typically shows significant improvement with prophylactic use of C1-INH (Cinryze). Given all these unusual features of your illness, I'd suggest you see someone who specializes in HAE to reevaluate whether you have typical HAE and if something else might be causing the swelling. If you need help finding an HAE expert in your area, please visit www.HAEA.org. Their team of Patient Services experts can help connect you. Find your local representative here.
My dentist says I need a root canal - should I put it off? I'm afraid it will trigger an HAE attack?
A lot of HAE patients put off surgery or dental treatments because they're afraid it may trigger an attack. Talk with your doctor - there are treatments available that you can take short-term, before a procedure, to help prevent an attack.
During an internal abdominal swelling, does full distension of the abdomen occur or can it be just slightly bloated to be considered as a HAE attack?
The degree of abdominal distention seen in HAE attacks is be quite variable and can include mild or even no visible distension. Abdominal attacks of Hereditary Angioedemaare due to edema (swelling) of the walls on the gastrointestinal tract, especially the intestines. This leads to the characteristic pain seen with these attacks and can also lead to vomiting and diarrhea. Depending on how much of the intestine is swollen, the abdomen will be visibly distended to different degrees. Distension may be more obvious in thinner patients as well.
Unfortunately, the signs and symptoms of an abdominal HAE attack can mimic those of illnesses such as appendicitis or other problems within the abdomen and in the past has led to unnecessary surgery for HAE patients. It is important for HAE patients to let health care providers know about their diagnosis so this doesn't happen. Also, newer ways of imaging the contents of the abdomen such as CT scans and ultrasound can help distinguish HAE attacks from other problems while avoiding surgery.
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I have been having periodic episodes of flushing face, followed by slight tissue edema around the nose, burning sensation and redness. I have not been diagnosed or investigated further as yet - these episodes have been infrequent and on the whole mild. I suspect the beginning of Rosacea; this has not been clinically agreed on. I have been told maybe hives then swelling related to hives (angioedema) and now it is put down to hormonal fluctuations and chronic stress. I had some swelling of my lip recently, they were very red, sore and inflamed - this was explained as viral and not related to the flushing, burning and redness which is intense at first then lasts for a while, the skin doesn't fully calm down. I have now been diagnosed with slight blepharitis and have an episode of dandruff.
Someone has mentioned these as signs of HAE with normal C1 related to my cycles/estrogen. I am concerned and worried that this is something more serious than I thought and doctors will not be able to advise until/if it develops further.Can you please confirm/adjust my understanding?
Angioedema can accompany hives as idiopathic or allergic or on its own - both can redden the skin and resolve with antihistamine and within a few days. I presume any sense of burning of the skin also resolves and no inflammation is left.
Hereditary Angioedema involves bradykinin and facial flushing is not a symptom -swelling is severe, noticeable on lips and face, generally not with a rash or redness, stomach pains can also be present.
As far as I can tell, I do not fit these criteria, but obviously the medical profession sees a connection between the appearance of flushing, slight swelling and some sort of immune/vascular/allergic response with the state of angioedema.
Can you confirm the difference between angioedema and HAE - severity, rash, redness, and residual marks?
There is no history as far as I know of HAE in my family - I am 44 years old. Is it common for HAE to first appear in relation to hormonal changes around menopause, I presume these are the factors doctors are thinking about in my case?
I am not expecting a diagnosis, only clarification as I cannot get to the bottom of my symptoms (which in truth are mild, but causing anxiety, I have never had allergies or skin issues or swelling like this) I have been told to just see...I am of the mind this is Rosacea or something similar or a response to hormonal change. Many thanks.
I would slightly rephrase how you put things above. Angioedema just means swelling and is seen both as part of HAE and in association with hives/urticaria. When there is no allergic cause we often call the angioedema “idiopathic” which means there is no identified cause. Confusingly, about 10% of patients with idiopathic urticaria and angioedema don’t have any urticaria, only angioedema and this can be hard to differentiate from HAE. Most patients with idiopathic angioedema (with or without hives/urticaria) respond to medicines like antihistamines and steroids (which don’t help with HAE). You are right that HAE often causes dramatic swelling making your symptoms less of a fit. While HAE can be accompanied by a rash, typically it does not involve flushing. There are a number of other causes of flushing as well, so that might be something to discuss with your doctors.
HAE typically presents by age 20 so presentation at age of menopause would be unusual. There is something called acquired angioedema that is often associated with and underlying illness and can present late in life. Testing reveals decreased C1-inh level and activity as in HAE.
I have been dealing with extreme swollen lips, eyes, hands, feet, tongue, and body hives for the last 8 years. They first started chronically where I would wake up in the middle of the night with one of or half of my lips swollen and engorged. An allergist told me it was a case of chronic hives and I may never know why. She prescribed 10 mg of Zyrtec and Singulair, which did help but made me exhausted. I then only started taking the Zyrtec when an attack occurred which seemed to be less and less all of a sudden.
Over the years, these symptoms have come and gone. Then all of a sudden a swollen lip will return. I have noticed this often occurs when my immune system is weak due to being sick, tired, when I am run down, and when I return from trips/vacations. Again, not every time. A new allergist I went to believes I suffer from an auto-immune condition with a yeast and mold sensitivity. This made some sense to me, as I have seen a semi-often link between high sugar drinks and food and attacks, although they seem to occur a full day later. Another strange thing, I now notice when I drink beer, my feet itch. This never used to happen. I took anti fungal medication and followed a strict yeast/mold free diet for 5 weeks. My attacks were much less severe and for the few that occurred on hands/feet, they were easily treated with only one OTC loratadine. (I sometimes take too many of these hoping they will get rid of my symptoms- benedryl also only sometimes helps in lessening the symptoms somewhat but makes me extremely drowsy). She also has performed 2 heavy duty blood tests, and the results made little sense when explained to me. One of my antibodies is extremely high, and is consistent with someone who has lupus (although I was assured I do not). Following the diet prescribed is very difficult for me, as yeast /mold are in so many foods. Another issue is that since it doesn't occur every time from one consistent trigger, I don't want to avoid something that I can in fact have. I can't seem to narrow it down.
I am now at a loss of what to do. The attacks have started up again about once a week. After begging, my allergist gave me 10 steroids (methylprednisolone) last year that I have tried to use sparingly. They are now (along with predinisone) the only thing that effectively treat the facial swelling. My doctor does not want to give me any more, for fear that taking too many over my life is harmful. However this condition is getting in the way of my career, health and personal life. If the attack was mild or not on my face, I could live with it. But I am now at a complete loss of what to do, and the the fact that I took my last 1/4 steroid this morning to fight off an attack I could feel coming on is giving me anxiety. I have an appointment with a new doctor soon, who I am hoping will give me a steroid prescription to take as needed. But I also want to get my story out there to see if anyone has any suggestions of what this can be. Thank you so much.
It sounds like the angioedema is really causing a lot of trouble for you. It sounds like antihistamines and steroids have been effective in preventing and/or treating the attacks but for some reason they’ve gotten worse recently. Your observation that being run down or stressed can worsen attacks is consistent with what is often seen. On the other hand there is not good evidence that yeast/mold exposure is a trigger or that diet is a big player in angioedema, although some patients seem to notice a connection. We really try to avoid regular use of steroids for angioedema because of the myriad side effects, although sometimes they are necessary. A first step to discuss with your doctor would be to increase the dose of antihistamines (doses of up to 4x normal are sometimes effective). The medicine omalizumab has recently been approved by the FDA for treatment of chronic urticaria and might be an alternative. Some patients who are not helped by antihistamines and require frequent use of steroids can benefit from using immunosuppressive medications like cyclosporine which have their own risks.
I have been diagnosed with Angioedema...I'm not quite sure of what degree I have it although my allergist/immunologist I saw, after my second attack going to the hospital, feels it's not hereditary. My attacks started [occurring] every 3 weeks and are getting closer together. To date all attacks have involved my face...the latest just my tongue. He told me the next time I feel it coming on, which I'm now able to detect, to take a combination of 5 pills 3-prednisone...1-singulair and 1-cetirizine followed by the same pills 12 hours later. So far that has proven effective. One of my outbreaks occurred after a severe attack in my stomach...With a history of H pylori and bad acid reflux, which my mother, grandfather and grandmother have also had, I'm wondering if I should look into this with another doctor. I did have blood work and according to my doctor all my tests came back fine...just looking for some more answers.
HAE of all types can cause severe stomach attacks. It is good that the combination of prednisone (a steroid) along with Singulair and cetirizine (an anti-histamine) help. Unfortunately the prednisone could make reflux worse. You might talk to either your allergist or PCP about treatments for reflux or seeing a GI specialist
My daughter started experiencing bouts of angioedema suddenly at age 12. We saw an allergist, had allergy testing and we've been treating outbreaks as they occur. She is now in her mid 20's and recently her attacks are becoming more frequent and she now has lymph node swelling. Can angioedema cause lymph node swelling? Her attacks usually involve mouth, tongue and eyes and the swelling can be severe. She has not been diagnosed with HAE, but I'm becoming more and more concerned with the severity of her attacks and increasing frequency. I'm wondering what steps we should now take to determine the cause and diagnosis.
Lymph node swelling is not a typical symptom of HAE and I agree that the increase in frequency of her attacks is concerning. She should definitely see an HAE specialist (the HAE association can help locate one near where she lives) to evaluate her and see if any triggers for her worsening symptoms can be identified.
I am a 54 year old male with a 37 year history of angioedema without urticaria (hands, feet, lips, face, gastrointestinal tract, genitals, and throat). Antihistamines have little if any effect. Generally I'm unable to find a trigger but sometimes it is outgassing from a new carpet, adhesive, washing the car with bare feet (maybe pressure). Lately, I've developed arthritis in both hips and suspect there is a link as I've had swelling in my knee joints. Do you have any ideas what this might be…does it fit HAE ?
As far as I know, arthritis is not typically associated with HAE, except that use of androgens can sometimes. The swelling in HAE is mostly in the skin, not inside the joint so I’m not sure the HAE attacks would predispose to arthritis. You are not unusual in not being able to find a trigger for many of your attacks.
I found this website after a long, long search to explain the symptoms I've experienced for over 34 years. However, the intermittent, migratory swelling I've endured since I was in my 20s does not appear as severe as those photographed, although it has worsened in the past two years, occurring more often and for longer periods of time. I have always referred to it as my "travelling lump", and it can be and has been extremely painful and cover a large area, such as recently across my entire collarbone into my upper arm. More often my swelling is usually localized beneath the skin, not affecting a large area, sometimes very visible and at other times seeming to be deep and painful, more like a large swollen gland, but less visible. No one in my family has ever experienced anything similar and my doctors have always just diagnosed allergic reactions and/or infections. One doctor suggested chronic Epstein-Barr, and several told me I need psychological counseling. Would it be wise of me to request testing for HAE?
I think so. Many episodes of swelling in HAE patients are less dramatic than those you may have seen. The swelling is typically quite painful which sounds similar to what you are experiencing. I would definitely discuss testing with your doctor.
Is it possible for HAE to only cause stomach swelling, however my feet have edema at times. My abdomen can be flat and within minutes resembles a 8 months pregnant belly. The episodes have been occurring for 6 months & now happening daily with several events. I can be going for a casual walk & have to sit down because of the sudden attack or it can be after eating/drinking. It's painful & I have had to stop all activities including a leave from my nursing job. Sometimes it takes days for the abdomen to return to normal & other times a few hours. It doesn't seem to be related to foods. I recently had surgery to remove abdomen adhesions but this didn't improve the symptoms. In fact made it worse, my doctor is at a loss & it will be months before I can get into a mobility specialist. Would I benefit from requesting to have the HAE testing or are these symptoms not related to most cases?
It is entirely possible for patients with HAE to have primarily or exclusively HAE symptoms [in one area] and diagnosis is often delayed in these patients. Typically, HAE attacks are a bit slower in onset, but they can definitely last only a few hours or a few days. Surgery can trigger HAE attacks as well. I definitely think HAE should be considered in this case, although it is probably not the underlying cause.
My 17 year old daughter was recently diagnosed with HAE Type 2. I was diagnosed over 20 years ago and mine is well-controlled with Danazol. We are researching acute treatment this summer for my daughter. She has had a difficult 6 months, between reoccurring HAE intestinal swellings and being diagnosed with both Strep and Mono in January. In addition she is in a rigorous academic program. A few months ago she had a very dramatic hair loss and the dermatologist termed it effluvium brought about likely by stress and illness. Could the HAE play a part at all? We are hoping her hair grows back strong and healthy now. Thank you.
I don’t know of any connection between telogen effluvium (which is when scalp hairs stop growing early) and HAE. However both illness and stress can trigger telogen effluvium and it sounds like your daughter has had both. Hopefully she’ll make a full recovery.
I started with whole body swelling and some mild itching. The ER believed it was an allergic reaction. I was on benadryl for several days. I got no relief. My Primary Doc did a bunch of blood tests and everything was normal. My Doc put me on Zyrtec 10mg four times a day and Zantac 150mg two times a day. I take no other meds. It's been over 5 weeks and I am equally as swollen. I had more blood tests and a 24 hour urinalysis. My C1 inhibitor, functional was normal at 92. My C4 complement was also normal at 31mg/dL. I have had no urticaria. Does this sound like HAE? How can I get my Doctor to consider treatment for HAE, even on a temporary basis? I would appreciate your opinion. Thank you.
Typically HAE attacks come and go over 2-4 days or so; swelling that lasted this long would be unusual for HAE, and the normal labs rule out type I or II HAE. HAE with normal C1-INH (previously called Type III HAE) could possibly be the cause, but a single attack lasting this long would be unusual. If the zyrtec and zantac haven’t helped you should talk to your doctor about other therapies but a course of steroids like prednisone might be considered first to see if it helped.
I’m diagnosed with Idiopathic Angioedema. Allergist said she tested me for Hereditary Angioedema which was negative. Now she’s testing for the other two or three types. How many types of Angioedema are there? Do you know if taking strong antihistamines or steroids will affect the other angioedema tests and cause them not to be accurate? My doctor did not seems to know the answer if the meds would affect the test results. I’ve have had many swelling over the last 5 years with them getting more severe, first my abdomen and now gradually including almost my whole body. My feet and hands are not much affected. My airways have not closed thank Goodness.
Antihistamines will not affect testing for HAE. There are many types of angioedema. There are 3 types of HAE. Type I is due to low levels of C1-inhibitor protein. Type II has normal levels but decreased function of C1-inhibitor. HAE with normal C1-inhibitor (aka Type III HAE) has normal testing but a family history. It is hard to diagnose with certainty. Angioedema can also occur on its own (not hereditary) and can be idiopathic (no cause known), due to a blood disorder (acquired angioedema-c1 inhibitor is low in these patients), due to allergies (allergic angioedema) or due to medicines (usually ACE inhibitors).
I have a 13 yo daughter who is complaining of tightening throat. It is not red or even look swollen. Thinking it is allergies since the season. My question is can my children have HAE if I have never shown any symptoms? My brother had it as well as my mother and grandmother.
Yes, it is possible. The disease is hereditary and since you have family history, even though you have not had any symptoms, you might have HAE as well, and could have passed it on to your daughter. There are rare people who have HAE, but never have attacks (I think approximately <5% of people with the disease). So you should get tested and have your daughter tested as well.
My doctor suspects I have HAE with normal C1, My attacks only occur at night upon waking, even if I sleep during the day (I rotate shifts as an RN). I most frequently have facial attack but have had abdominal and airway attacks as well.
1. Should I have my C1 level checked during an attack to be sure that I don't have type II?
2. In regards to Prednisone to rule out idiopathic angioedema how long do you use it as a PRN (as needed) before deciding it is ineffective. It has not worked after 6 facial attacks, and I have already failed Benedryl, claritin and allegra
3. Do you see abdominal attacks with idiopathic angioedema?
Great questions: 1. Type II HAE is due to low C1 function but it should be low all the time, not just during attacks. 2. There is no hard and fast rule on this, but it sounds like it is not working for you. 3. Not often but they can occur.
I just started my facial swellings about a month ago and was told today that I have some form of HAE by my doctor. He wanted to run allergy test, but he said that if you got it, you got it. I don't understand what the tests would be for. Also, the swelling goes away after a few days down to just to one little small area of my face and then it reacts again, swelling up my face "full blown". How long will this last?
It is impossible to say how long swelling will last, but to diagnose HAE specific tests (of C1-inhibitor level and function) must be run. One other consideration is that head and neck swelling can often be caused by a kind of medicine called ACE-inhibitors (ACE stands for Angiotensisn converting enzyme) which are often taken to lower blood pressure or for kidney or heart disease. They can cause the swelling even after having been taken without problems for months. Allergies can cause swelling but often the allergy is obvious (e.g. a person swells each time they eat a specific food).
I had swelling without other allergic signs at age 6, mainly of lips. Have had several episodes of what seem to be non-allergic swelling throughout my life. My mother said that she had this same swelling when she was young. I also had ACEI angioedema that I understand is not allergic swelling, at age 46. The last time I had an episode of what seemed to be non-allergic swelling was in 2011, several times, in my throat. I was 61 then. I ended up in the hospital but no one believed my history with this. Steroids did not help. I had another episode 12 hours later or so, while I was on steroids and breathing treatments. I could feel the swelling slowly travel from the upper throat, down esophagus, then small intestines. This happened two weekends in a row. It seemed it had to run its course. During a 3-day period, I had double the urinary output with this - I assume the fluid that caused the swelling was trying to get out of my body. Then things resolved. My question is-does this sound like HAE type 3? Thanks. Suzanne
Yes, your history is consistent with “Hereditary Angioedema with normal C1-inhibitor” which is the new name for Type III HAE. You have episodes of swelling that don’t respond to typical treatments like steroids and antihistamines and a family history of similar swelling. Unfortunately, we don’t have a definitive test for HAE with nl C1-INH so it is a clinical diagnosis, usually made in those with a consistent history of symptoms, no response to antihistamines/steroids and a family history. Please talk with your treating physician about possibly getting tested for HAE Type I and Type II to eliminate those possibilities.
Hello, my 13-year-old daughter just returned from a 2 day stay at the hospital on suspicion of appendicitis. The CT scan came back normal. My daughter has a history of idiopathic anaphylaxis and GI discomfort (diagnosed with IBS for now). While in the hospital she broke out into hives/rash itching on 2 separate occasions.
She was administered a small dose of morphine and zophran upon being admitted. Beyond that, she wasn't given any medication except for Benadryl when the second "allergic reaction" took place.
1. Can we eliminate the possibility of HAE given that the rash/hives and itching were eliminated with Benadryl? (and it's hard to tell what helped the stomach pain, but it subsided also after taking the Benadryl)
2. Should we follow-up with her GI doctor or a rheumatologist?
I appreciate any insight. Thank you.
It is typically thought that HAE is not associated with hives (urticarial) and it definitely doesn't respond to antihistamines like Benadryl. However, hives are common and there is no reason a patient could not have hives AND HAE. With this history testing for HAE would definitely be reasonable, although it is unlikely to explain her stomach issues. She should probably follow up with both a gastroenterologist for the GI symptoms and an allergist (if she hasn't already) for the idiopathic anaphylaxis and hives.
I have a patient who fits the picture of HAE type III. Can you provide me with some guidance as to laboratory testing that will aid in diagnosis?
Unfortunately, HAE type III (now called “HAE with normal C1-inhibitor) does not have any abnormal lab findings associated with it. C1-Inhibitor level and function are normal as is C4 and other blood tests. Some patients in Germany with HAE with normal C1-Inhibitor were found to have a mutation in the gene encoding a protein called Factor XII which works in the same pathway as C1-inhibitor but this does not appear to be common elsewhere. At this point, the only recommended testing is to rule out C1-inhibitor deficiency.
I have struggles with random swelling in deep tissue of my hands and mouth in particular. I have had pressure sensitive swelling for years and don't know the trigger. It started in my 20s after my gall bladder surgery. My father developed the SAME symptoms after intestinal surgery. Today my hands are swelling and I am wheezing. Last night my lower lip was swollen. Prior to the swelling I get tingling that almost itches. Help.
Of course the first thing is to consult your doctor and/or an allergy specialist. This sounds like it could possibly be delayed pressure urticaria and angioedema, where swelling, which can often be painful, occurs sometime after pressure on the skin, like from carrying a backpack. This can be tricky to diagnose and hard to treat. It is often confused with angioedema. HAE can also be preceded by a sense of tingling so it will be important to test for that as well.
My father was just recently diagnosed with HAE. My grandmother died from it, although was not diagnosed at the time. I have two brothers and none of us have had the same symptoms as my dad and grandmother. However, 3-4 times in the last several years I have had problems swallowing. Usually it is when eating meat. I feel no swelling prior to the meal, but when I swallow a bite at some point during the meal I feel like it gets stuck. I then have an hour or so long episode of coughing and feeling as if I am choking. Then it is resolved. Could this indicate I have HAE?
While not typical for HAE, your symptoms could represent mild laryngeal attacks. With such a strong family history, I’d recommend being tested just to make sure. A recent article shows a much higher rate of fatal attacks in those who did not know they had HAE.
In March 2011 my husband had bronchitis so was given an aspirator and swelled so we both assumed he was allergic to it. Then mild swelling went off and on until 10/2011 when he had swelling in the lips, tongue, fingers, feet accompanied with hives. He was diagnosed with Idiopathic angioedema because he had no known history. He is now on a cocktail of 4 meds 2xs a day, still with periodic swelling and need for steroids.
2 questions: Our 25year old son was just diagnosed with physical urticaria and though he swells on the skin, when you write on his skin lightly with a fingernail, his other symptoms are the same as my husbands,(swollen face, hands, feet, eyes and hives), which lasted over a week. So could it be HAE and they both have it? Secondly, is there a relationship between elevated liver levels (fatty liver) associated with angioedema?
HAE is not typically associated with hives (raised, itchy patches of skin also known as welts or urticarial), although there are probably patients who by chance have both. Neither the history of your son or husband sound like HAE because of the hives. There is probably some increased risk of hives in family members, but the association is not as clear as it is with HAE.
My daughter (23 yrs old) has been diagnosed with Type III [HAE] by Dartmouth-Hitchcock Med Center....my question is: she has also been diagnosed with Gastro Peresis and complete motor failure of the esophagus....can the angioedema be causing the peresis? I'm thinking internal swelling causing the stomach emptying? She was doing ok after an 11 week hospital stay, home for a week and started her period and is now re-admitted to due vomiting out her tube feed, again I'm thinking every thing was fine until she got her period and maybe internal swelling causing tube feed issues ?
I don’t think these are likely to be related. HAE with normal C1-inh (the new preferred name for type III HAE) is harder to study because there is no single test for it, but in general HAE doesn’t seem to be associated with these types of gastrointestinal symptoms.
My daughter (age 42) has been diagnosed with HAE and she also has diabetes and has shots for that every week. She is overweight and doesn't seem to be able to lose weight, no matter how healthy she eats. I thought swelling was associated with diabetes also. She has HAE attacks in her throat & stomach. Her doctor is advising a hysterectomy. I have no idea if she is telling the OBGYN or endocrinologist that she has diabetes.
First, it is very important that your daughter let all her doctors know about her medical conditions, including HAE and diabetes. Swelling is not directly associated with diabetes, but patients with diabetes are at risk of heart failure, which can cause edema (swelling), especially of the lower legs. This is different than the edema in HAE in that it isn’t as episodic and the edema is “pitting” meaning that steady pressure will cause the skin to move inward leaving an indentation in the skin. Some medicines taken by those with diabetes can make weight loss difficult. Your daughter should discuss with her endocrinologist
I recently had a c4 test done and it came back low (12). The allergist had the c4 repeated and it was (13) along with c1 esterase inhibitor antigen (16) and functional (88) and a c1q (18). The allergist said they were normal but wanted to repeat the tests. According to the lab reports the c4 and the c1 antigen were low. Are they not low enough to be a concern is that what he means by normal? My physical symptoms are swelling of the eyelids, and repeated GI attacks. If the labs come back in the same range again and I am told they are normal would you get a 2nd opinion? I have had food allergy testing done and all have come back normal.
This is an interesting case. Reference values used vary from lab to lab but typically, functional C1-esterase is <50% of normal, so 88% is not typical of hereditary angioedema. I'd recommend having your allergist retest you during an attack as values are invariably lower then. If they remain within the normal range that would be strong evidence you don't have HAE due to C1-inhibitor deficiency.
Hi, I am a sixteen year old female. When I was thirteen, I had my first facial swelling. My lips and cheeks swelled, and I had to go to the ER for treatment. There were absolutely no hives or itching. I was treated with a very high dose of Benadryl, and I ended up being okay. Several months later, my throat swelled to the point where I had extreme difficulty breathing, and I was rushed to the ER, and treated with an Epi-Pen (yes, in the hospital) and a lot of Benadryl and steroids, and was ultimately okay. This happened again several times, and we were given Epi-Pens to keep at home to use when an attack started before we went to the hospital. There have also been a multitude of minor attacks, where I had no difficulty breathing, which we were able to treat at home with a lot of Benadryl, and the swelling subsided after a few hours. After a while, we began to notice a pattern. The attacks always occurred in the middle of the night while I was asleep, and always when I was beginning to get sick, even with the most minor of colds. Whenever I get sick, I have a swelling episode. The most recent episode (and last time I got sick) was last July. My doctors tested me for practically every allergy known to man after the first attack, and found nothing. There were also absolutely no signs of an allergic reaction from any attack I've had, aside from the facial/laryngeal/uvular swelling. (Aside from the first attack, they have been uvular, but possibly also laryngeal sometimes. I don't remember correctly.) I periodically go to a major research hospital about my condition, and they still don't know what it is. They put me on two Zyrtec a day to prevent the attacks, but they were found to be ineffective. I even took five once when I was suspecting that I would have an attack (right before I went to sleep, when I was getting sick), but I still had a horribly severe one and had to go to the ER. I was found to have normal C1 inhibitor levels. The doctors have ruled out an allergy for sure. For some reason, they haven't entirely ruled out HAE type III, even though whatever I have responds to antihistamines and epinephrine, so they say it's not hugely suspected. Again, they know it is for sure not an allergy. I have absolutely no family history of anything like this. Do you have any idea what this could be?
It sounds like you have had good care. There are many patients who have angioedema (swelling) and the reason is not clear. Even in patients who respond to typical "allergy" treatments like antihistamines and epinephrine many are never found to have an allergy. Doctors call this "idiopathic angioedema" where "idiopathic" means "unknown." You state you have normal C1-inhibitor level but you should make sure function was tested as well as patients with type II HAE have normal levels but decreased function. Type III HAE (also known as Hereditary Angioedema with normal C1-inhibitor) is poorly understood. Some patients seem to respond to treatment with newer HAE medicines although why or how to identify these patients is not clear. You might discuss this with your doctors, particularly as preventative therapy with antihistamines (which was smart to try) doesn't seem to work.
I am still trying to figure out what is going on with my daughter and it's seems like HAE could possibly be a possibility. My Daughter is only 21 months old at this point, but she has had 2 episodes of severe swelling of her face. The first time it happened was in the summer and it really was bad. It started out with swelling in her face which at that point I gave her some Benadryl to see if it would help since it looked like an allergic reaction. The Benadryl didn't seem to help so I went to the hospital with her since it was night time. They told me to keep going with the Benadryl since her airways are clear and it looks like a plain allergic reaction to something. So we went home. In the morning her hand was swollen pretty bad. So I went to the pediatrician who gave us steroids. We went back home I laid my daughter down for a nap and when she woke up her feet started to swell up so bad she couldn't walk anymore. So I called the pediatrician and she told me to give her both the steroids and Benadryl and wait about an hour or 2 to see if the swelling would go down. Well it didn't in fact she also developed swelling on her belly and genital area so I went to Children's Hospital with her. But by the time we got see an actual Doctor the swelling actual has started to come down some. Still not gone but definitely not as bad as it was. So the steroids seemed to have worked. So they just sent us back home with the same instructions we had gotten from the pediatrician and said it was an allergic reaction to something she was exposed to.
She did have a flare up of swelling in her genital area leg and foot when I tried to wean her off the meds after a few days of her being on the Benadryl and steroids.
This second time which was about a week ago she woke up and had a red spot on her face that seemed a little swollen. I just watched it for a few hours. She went down for a nap then when she woke up her face was completely swollen. No issues with airways though. I immediately gave her Benadryl which seemed to help. Though I don't know if it is the Benadryl that does most of the work or her moving around, but it seems that her swelling usually gets worse after she has slept. The swelling was almost completely gone the next morning with giving her Benadryl every 6 hours. She also has had a cold every time she started to have swelling. So I don't know if that could be a trigger at all.
I just really don't find the explanation of a plain allergic reaction to who knows what very satisfactory. The swelling is severe... it doesn't seem to bother her unless it affects her hands and feet. Benadryl seems to help so that's why I'm not sure if it's HAE but everything else sure sounds like it. So my question is even though the Benadryl seems to work that HAE may be what she has?
Benadryl and other antihistamines do not work for attacks of hereditary angioedema (HAE). However, it can be hard to determine if the Benadryl is helping or if the swelling is just improving on its own. Viral illnesses can definitely trigger angioedema for which no underlying cause is found (also known as "idiopathic angioedema") in addition to triggering HAE attacks. I suggest you talk to an allergist about possibly testing your daughter for hereditary angioedema and determining the cause of her swelling.
Since May I started getting hives and swelling. It has been a very painful experience. My face would swell up and my throat did a few times as well. Antihistamines do help but do not take it away. And just recently I have discovered that workouts at the gym (cardio classes) help to control the symptoms as well. So at the moment I am only taking antihistamines. But if I can't get to the gym for a few days the hives do get worse. Should I be considering medication? Also is there a gene test to be absolutely sure this is what I have?
The combination of hives and swelling (angioedema) is typical of a reaction mediated by histamine, and is not suggestive of hereditary angioedema. I am not sure why exercise helps control your symptoms, but it has many other benefits so I'd keep it up. Antihistamines are the first-line of treatment. There is no need for genetic testing.
I have been diagnosed with allergies. However the allergens do not line up with the attacks. I have had this for 7 years now. I am a teacher and I had to leave earlier in the week, because of a flare up. This has ruined my life before and is starting to again. Please help me find a way to treat my condition.
I am not 100% sure if it is allergies or HAE which are causing you the problems. If it is the allergies, there are many effective therapies including antihistamines, nasal steroids and allergen immunotherapy (aka allergy shots) that can treat the allergies. You could start with your primary care provider and then see an allergist, if need be. If it is the HAE that is causing you the problems, you should see an allergist as soon as possible, ideally one with experience in treating HAE. There are three medicines now available that can treat sudden HAE attacks once they start and one that can be used to prevent attacks. They each have their own pros and cons so you should discuss with your allergist, but an effective treatment strategy can now be developed for all or almost all HAE patents. If you need help finding an HAE expert, please visit the HAEAssociation (www.haea.org). Their Patient Services Team can connect you with someone in your area. Please visit the following link to find a representative for your state: http://www.haea.org/contact/patient-services/
I have a low c1 esterase inhibitor, but fairly normal c4 levels. I started seeking help with an allergist for a chronically swollen tongue (for several years). I do get occasional lip swellings. I just had my bottom lip swell for 2-3 days after quite a bit of sun exposure. My eyes get very puffy after crying, and that lasts up to 24 hours. My question is, although my labs point to HAE, but I do not have "classic symptoms", could I possibly have the gene mutation, rather than hereditary? At what age would symptoms begin? I am 48. My fear is having my minimal issues dismissed, yet I have a case that could worsen eventually?
I have very caring doctors, however none know much more than I about HAE. Additionally, I am getting a partial thyroidectomy, due to a mass, to confirm it is benign. I have read that HAE and low c1 can be precursors for lupus and lymphoproliferative disorders. Tongue swelling can be thyroid related, as well.
I had my gallbladder removed 2 months ago, and had platelets on standby, per anesthesia. I worry about the upcoming thyroid surgery. I am an RN of 23 years, in graduate school, to be a nurse practitioner. Of course, I would have the not text book symptoms.... Thanks for any answers you can give me!
First, let me note that I cannot give medical advice about specific cases via the internet as that does not represent good medical practice
In general, about one-third of patients with HAE do not have an affected family member. In these cases, the patient with HAE may have a new mutation (also referred to as a “de novo” mutation) in the gene coding for C1 esterase inhibitor. Clinically, the disease is indistinguishable from patients with a family history, although it may be diagnosed later. C4 levels are typically thought to be low in patients with HAE, but some studies have shown a fraction of patients with normal C4 levels in between attacks. The C4 level is almost always low during attacks. Finally, the severity and frequency of attacks varies widely between affected individuals. While many HAE patients have symptoms and are diagnosed earlier in life, there have been some cases where symptoms present later in the patient’s life and, at that time, the diagnosis is made. Therefore, mild or infrequent attacks do not preclude the diagnosis; there might be other conditions that are contributing factors It is important to connect with your doctor for a full, comprehensive examination. If an individual has HAE or thinks they might, and are not happy with the care they are getting, I’d suggest seeing an HAE specialist, even if for only one visit to sort out the issues. The HAEA can be very helpful in identifying a specialist in a given area.
32 years ago I was misdiagnosed at the age of 36 with tongue swelling as having a mold allergy. I have had a handful of attacks each and every year since, including just recently. Today I now know that what all of those allergists told me years ago was incorrect and that I have HAE, although not sure what type. My questions are twofold. Blood tests are going to be done, particularly with my next attack. Do you recommend any type of medications in the interim? Secondly, I have 3 children all in their 30s. No symptoms of any kind with them. What are the chances they will have HAE? No one in our family history ever had this.
Unfortunately, it can take years for many patients with hereditary angioedema (HAE) to be correctly diagnosed. Most patients with HAE have a defect in a protein called C1-inhibitor. There are two well-known types of HAE - Type I HAE is when not enough of C1-inhibitor and Type II HAE is C1-inhibitor that doesn't work properly. There is another type of HAE that also causes angioedema (or, swelling) which is called Type III HAE. Unlike Type I and II HAE, patients with Type III HAE have normal levels and function of C1-inhibitor but swelling presentation looks similar in the three HAE types. A blood test can determine if a patient has Type I or II HAE or some other cause of swelling. Possible treatments will depend on the results of the test. The child of a patient with Type I or Type II HAE has a 50% chance of having HAE. Most experts would recommend testing children whose parents have Type I or Type II HAE, although almost all people with HAE have symptoms by the time they are in their 30s. Patients who are diagnosed with HAE should speak with a doctor about the available therapies to prevent and treat attacks of HAE.
Is it possible to have HAE even though the blood tests come back negative for it? My daughter has tested negative but has all the symptoms.
There are many reasons why people have angioedema (swelling) only one of which is Hereditary Angioedema (HAE). Some people may have symptoms that are typical for HAE but not have a defect in the C1-esterase inhibitor, the enzyme responsible for HAE Types 1 and 2. In cases where there is also a family history, some physicians with expertise in HAE may make a diagnosis of HAE Type 3, although, in most cases, there is not definitive test for this type of HAE. I’d recommend your daughter see an allergist with expertise in angioedema, including HAE, to discuss the different possibilities.
About 10 years ago, around the age of 48, my husband had a swelling in his genitals that came on very quickly and started with severe itchiness. He has continued to have swelling in different areas of his body mostly in the face and lips about a month ago he had his first swelling in his throat. His allergist calls this angioedema and is treating him with a steroid and various antihistamines. Is there a test to diagnose this as HAE? There is no one else in his family, that we know of, that has HAE and his doctor says it's an allergic reaction but when he was tested for allergies, nothing was positive. Is this HAE as opposed to regular angioedema? Is this something that should be treated by an allergist or a rheumatologist? Thanks in advance for any information you can give us.
Angioedema simply refers to swelling and there are various types of angioedema that can be due to a number of causes. In hereditary angioedema (HAE), there is not sufficient amount of properly functioning C1 inhibitor protein. This leads to low levels of a serum protein called C4. A test for C4 levels can be performed to help with the diagnosis of HAE. In addition, a test for the amount and function of C1 inhibitor can help to determine the type of angioedema.
If angioedema, or swelling, is accompanied by itching it is usually not due to HAE. When no cause is found for angioedema, it is called idiopathic. Idiopathic angioedema is often but not always associated with urticaria (also called hives or welts). Treatment is typically with antihistamines with potentially other medications, if needed. This is effective for most patients, although higher than usual doses are often needed. Although hives and swelling are often found in allergic reactions, idiopathic urticaria and angioedema are not generally due to an allergic reaction. Typically idiopathic angioedema is treated by an allergist, but dermatologists and rheumatologists may also treat this disorder.
I am looking for help with my daughter who has been diagnosed with angioedema. Even though her C1 inhibitor looks normal, all of her symptoms point to hereditary angioedema. We traveled to a local major hospital in hopes of some answers and solutions but still have questions. Her family doctor had her on an immunosuppresant antihistamine and a leukotriene receptor agonist. The doctor at the major hospital has put her on a steroid and other antihistamines. My daughter is an active healthy 14 year-old and this has really been hard on her to deal with and understand. Any help you can give us would be appreciated.
Angioedema is simply swelling and there are many types of angioedema that can be due to a number of causes and sometimes it has no obvious cause, which is referred to as idiopathic angioedema. Many patients with angioedema that is not due to hereditary angioedema also have urticaria, or hives (welts). Patients with urticaria and angioedema often respond to medicines like steroids, and antihistamines.
There are various ways to get tested for different types of angioedema. In hereditary angioedema (HAE), there is not a sufficient amount of properly functioning C1 inhibitor protein. This leads to low levels of a serum protein called C4 and that can be used to screen for HAE. In addition, the level and function of C1 inhibitor can be measured to determine the type of angioedema.
It is important to talk to your physician about doing a proper test to get an accurate diagnosis. If you are looking for an HAE specialist in your area, the US Hereditary Angioedema (www.haea.org) may be able to help connect you to one. Please contact an HAEA Patient Support Services representative in your area by visiting http://www.haea.org/contact/patient-services-representatives/.
I was diagnosed with Type III hereditary angioedema last year. My father also suffers from attacks although they are much less frequent than mine. He is terrified of doctors and refuses to be tested. Your website states that Type III only affects women; however my specialist told me that recent studies have shown it exists in men, too. I was just wondering if he was correct and if that means my father had Type III and I inherited it from him as this seems like the simplest explanation.
While Type III hereditary angioedema (HAE) has been mostly seen in women, there are now reports of Type III affecting men as well. In a fraction of patients, primarily from Europe, a defect in the gene that codes a protein, called Factor XII, seems to cause Type III HAE, but this has not been found for many patients. Estrogen, a female hormone naturally produced in the body and can be found in some medications, such as birth control pills, seem to trigger Type III HAE attacks, along with Types I and II attacks. Since the genetic basis underlying Type III HAE is unknown, it is impossible to know for sure if you inherited it from your father, but it is certainly possible.
HAE runs in my family, and I've had swelling in my hands recently. Is there a way to know for sure if I have the disease?
Any doctor can perform a test to check your C4 level. C4 is a protein that is part of the body's complement system, a group of proteins that move through your bloodstream. They work with your immune system and play a role in the development of inflammation. If your C4 level is normal during an attack, that basically rules out HAE. If your C4 level is abnormal, you should see an HAE specialist.
NEW! - 11/14/14
My boyfriend has just been diagnosed with HAE. Reading about it just freaked me out We plan to get married some day and have children. He has never had any severe attacks like the images I see on the internet. What should my expectations be? Is it definite that our children will have it?
There is a 50% change that a child of a person with HAE will inherit the illness, so it is not certain but definitely possible. The range of severity ranges greatly in patients with HAE, from infrequent mild attacks to frequent severe attacks. The good news is that there are now effective treatments that can both treat attacks before they get so bad as well as prevent them.
My wife has HAE and was treated with danazol 100mg every 2 days, which was quite effective at stopping attacks. Now we are trying to get pregnant and she stopped taking danazol in May. Now (October) after 3 months of trying to have a baby she is not pregnant. Although I understand that 3 months are not too much, my question is if the fact that she was on danazol lowers our chances of conceiving. If yes, will our chances increase as the time passes? 5 months have passed from the last time she took danazol. Thanks a lot.
This is a good question. Use of androgens such as danazol should be avoided in women who are pregnant or trying to get pregnant. They can interfere with fertility, but by 3-5 months after stopping there should be no more effect. HAE itself does not seem to be associated with decreased fertility, either so I don't think this is related to either the HAE or the danazol.
My son has HAE, and I have read that the brain can swell. My question is, could brain swelling cause major depression and/or schizophrenia symptoms? Thank you.
Not that I am aware of. While rarely HAE may cause swelling of the brain I don’t think it would cause chronic symptoms of depression or schizophrenia.
Hello, my wife has HAE and she inherited it from her father. Her father though has never had a single HAE Attack. Are there lots of people that have HAE and don't ever suffer from HAE attacks? Does it matter if the patient is male or female? If we have children I have read that the chance of them having HAE is 50%. If they have HAE is there a chance that they never have a HAE Attack like their granddad? Does it matter if the child is a boy or a girl? Thanks a lot!
Great question. There are rare people who have HAE based on testing but rarely if ever have attacks. I think these are <5% of people with the disease. You are right that any child of a patient with HAE has a 50% chance of also having it. It does not matter if it is a boy or girl. It is possible that the child would inherit the gene but never have an attack but that is rare.
I just had a baby back in July 2013. I have HAE. When can I get my daughter tested for HAE? She has been having rashes like I get with my HAE, so how soon can I get her test for the HAE?
It is thought that testing is most reliable after 1 year of age so I typically test then.
My five year old has been diagnosed with idiopathic angioedema. She has been battling episodes of hives and swelling since September 2013, on October 31, 2013 she was diagnosed. Since then she is being treated with antihistamines, however they are not controlling her episodes and her doctor now wants to try cyclosporines for treatment. Is this safe, should I allow the treatments or should I take my child for a second opinion.
Idiopathic angioedema/urticarial can be very difficult to treat. The first step is antihistamines (such as cetirizine, loratadine or fexofenadine). Often high doses, up to 4x the usual dose, are needed to control symptoms. If that doesn’t work, montelukast (Singulair) is effective for around ½ of patients. If symptoms are still not controlled, there are a variety of other options, but they start to have more side effects. Sedating antihistamines (hydroxyzine, diphenhydramine/Benadryl) work for some but cause sedations. Immunosuppressive medicines such as cyclosporine can be very effective but have side effects that need to be watched for. Finally, newer evidence shows that omalizumab (Xolair) and antibody typically used to treat asthma is effective for some patients. Some patients may choose to just live with some swelling and hives. A major children’s hospital near where you live might be a good place to get a 2nd opinion.
I am at 23 year old female with a three year old son. Before my son was born I had never had an attack. When my son was about three months old I had my first angioedema attack. After months of testing and hospitalizations, Mass General diagnosed me with Idiopathic Angioedema. We believe my pregnancy is what triggered my attacks because since the months of having my son, my attacks correlate with my period and any sort of infection I get. If we believe the pregnancy hormones kicked my body into these (multi a month) attacks, could having another child maybe kick my body back into normal? Is trying to conceive even an option? My question is: Could the fix to all of this be me having another child?
This is a very good question without a clear answer. Since your attacks started while you were pregnant I’d be concerned about a possibility that a future pregnancy could have the same effect on your attacks. However, very little is known about pregnancy and idiopathic angioedema, other than increases in estrogen seem to worsen symptoms or many patients. Unfortunately, it can’t really be predicted what would happen if you got pregnant again. I would highly recommend speaking with your treating physician before making a decision on whether to get pregnant again.
I am a 29 year-old female, recently diagnosed with HAE with normal C1-inh (previously referred to as type III HAE). To my knowledge, no one in my family has HAE--suggesting my situation is due to the gene mutation. I am aware that a child of an individual with Type I or Type II HAE has a 50% chance of inheriting HAE. Does this percentage apply to women with HAE with normal C1-inh? If there is a chance that I would pass HAE onto my children, would it be HAE with normal C1-inh or could they potentially have Type I or Type II?
Typically, HAE with normal C1-inh is thought to run in families, but since the underlying genetic mutation is not known, we don’t know how often it is passed on to children. Current data suggest that the risk is less than 50% (which is seen with type I or II) but we don’t know how much lower
I have HAE and recently got married. My husband and I would like to have children; will our children have the disease?
Not necessarily. If one parent has HAE, there is a 50% likelihood that his or her child will have hereditary angioedema, too. Most diseases are recessive - that means that you need 2 "bad" copies of the gene for the disease, one from each parent, for the child to develop that disease. But HAE is what's known as an autosomal dominant disease — you only need one "good" and one "bad" gene for that child to have the disease.
I have HAE and I am 32 years old. I want to know if it is possible to conduct a gene test about our disease. I want to have a healthy baby and I read about pre implantation genetic diagnosis. Is this possible? Thank you very much!
Decisions about family are very difficult for patients with HAE. HAE is a genetic disease and 50% of children of HAE patients will have HAE. A new option that you mention is pre-implantation genetic diagnosis. In this procedure, in vitro fertilization is used and then the developing embryo is checked for the genetic mutation that causes the disease of interest. The embryo is only implanted in the mother if it is free of the genetic mutation causing the disease.
I would recommend setting up an appointment with a genetic counselor to discuss the issues related to inheritance and possible options. If prenatal diagnosis is an option, this could be discussed with a fertility specialist.
NEW! - 11/14/14
oday my test cam with a 16 on 1 and a normal reading on 4 suggesting HAE type 1. I am 54 diabetic, with disability from neck/back issues and I am with other issues started swelling March 2014 after one bite of pineapple. swelling of lip or tongue(mainly tongue) since.Itsbeen about 6 weeks since last one which was bottled water with a nexium.o I quit those and 10 days before blood drawn I had a steroid shot for sinusitis, ect. ould that steroid a false 1 or can anything else cause it to be wrong? is So rarehard to believe. Benadryl helps. likely could I smother to death? never been in throat) Any advice I out as I am afraid I will die?
First, 16 is the lower limit of normal for C1-INH in many labs and typically patients with HAE have levels well below 16 as well as low C4 levels, so your values don’t necessarily indicate that you would have HAE. It is hard to say for sure without actually seing the labs, of course. It would also be unusual to present with swelling for the first time at this age with HAE, although there is something called Acquired Angioedema (AAE) which can develop at this age and is often associated with underlying illnesses. I don’t think the steroid shot would explain abnormal labs (if they are indeed abnormal). The good news is that while patients sometimes dies of HAE attacks in the past, this should not occur anymore as there are safe and effective therapies to treat attacks.
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My 16 old daughter has a mediport for her treatment of HAE. She has had to have 3 replacements nowue to an infection in the mediport. We just had another one done a few days ago. out and another put in all in one surgery. I was wondering is this common for the infection to happen in the Could her body be rejecting the port due to her HAE? And do you know of another alternative to the medi? FYI, she be infused through her veins, because of her small size. Thank you.
It is unfortunately common for patients to get infections from ports (and other forms of ongoing vascular access). C1-INH may also increase the risk of blood clots forming, making ports for HAE patients particularly problematic. We generally try to avoid them as much as possible in patients with HAE. Some patients can use subcutaneous medicines to treat acute attacks but right now there is no treatment that prevents attack that can be given subcutaneously. Luckily several approaches that will work subc for prevention of attacks are being tested.
NEW! - 11/14/14
Hi, believe my husband has HAE, but not diagnosed. He has been having episodes of swelling of the lips, and face, mainly, but as I have been reading the stories I believe abdomen as well. There are where he has severe abdominal pain but he it to his GERD. What lab work can be tested to confirm the .
My husband also has Psoriasis, it has become severe, and he is about to begin medication for it there any connection between that and HAE
C1-inhibitor level and function can be tested to make the diagnosis of HAE in most cases (there is a type of HAE in which C1-inh is normal but this is relatively uncommon in men). I don’t know of any connection between psoriasis and HAE.
NEW! - 11/14/14
If a patient has Rheumatoid Arthritis and HAE how do I distinguish the difference with finger swelling - the swelling seems to be double its size and not just the joint area?
This is a great question. Typically swelling of HAE involves a larger part of the body such as an entire hand or at least several fingers. Swelling from arthritis is often, but not always more chronic (longer lasting) with some pain and discomfort in the area even when swelling resolves, whereas HAE is typically severe for one to a few days and then completely resolves
All three of my grandsons have HAE. The oldest is 4 and has been having attacks at least once a week. I had heard of a bone marrow transplant working on a young boy, is this a possibility?
I am aware of one case, reported in 2012 where a 7 year old with HAE(and Evan’s syndrome, an autoimmune disease with decreased platelet and red blood cells), underwent a bone marrow transplant as therapy for the Evans syndrome. The donor did not have HAE and the patients HAE was apparently cured by the bone marrow transplant. That said, with the newer therapies available for HAE, I do not think the benefits would outweigh the risks of a bone marrow transplant for a patient with HAE.
What other comorbid conditions are associated with HAE? Generalized Anxiety Disorder? Depression?
I recently went to see my PCP and was diagnosed with subclinical hypothyroidism. I have been reading different resources online (such as uptodate, medscape, and pubmed journal articles) and I am finding that I may be at risk for hypothyroidism or hashimoto's hypothyroidism. My PCP does not seem to be concerned, however, I do not believe my PCP is familiar with my condition. Should I follow up with an Endocrinologist? Should I seek treatment with synthroid?
Some background information: I am 29 years old, female, and I have a family history of hypothyroidism (mother and maternal grandmother).
My only concern is if I should be more conservative (wait 3 months to repeat my labs) or be more proactive in seeking treatment. I am symptomatic with extreme fatigue, weight gain (however I am still considered to have a normal BMI), dry skin and poor skin healing.
Thank you and I appreciate your help and advice.
I am not aware that HAE and thryroid conditions are linked. It is typical to take a “wait and see” approach for patients with subclinical hypothyroidism although if you are concerned and having symptoms consistent with active hypothyroidism you should discuss with your PCP and/or seek a second opinion. Historically, patients with HAE have had decreased quality of life and perhaps more anxiety and depression, probably due to the burden of having the disease and having attacks. Recent data suggests use of prophylaxis or newer acute therapies can improve quality of life back into the range of normal.
I have chronic neck and shoulder stiffness and pain. Could this be related to my HAE? I saw a rheumatologist and she was not sure.
I don’t think so. HAE attacks are typically severe and limited in time not chronic. So the neck and shoulder pain and stiffness you are experiencing are probably distinct from your HAE.
Is there any research that shows the frequency of Laryngeal attacks? If so could you please tell me how to find it? I am trying to help a young man get out of prison who has HAE. The prison is saying that because of the frequency of Laryngeal attaches and the frequent need to be intubated this young man is better off incarcerated than at a half way house. Any help would be greatly appreciated.
In the largest series I’m aware of (Bork et al. 2006. Hereditary Angioedema: New Findings Concerning Symptoms, Affected Organs, and Course. American Journal of Medicine 119:267-274) is a series of 221 patients for Germany with 131 thousand total HAE attacks. 54% of patients had one or more laryngeal attacks at some point in their life, but the larynx was involved in <1% of all attacks. For any individual patient, then, the risk of a laryngeal attack over a short time is very low. However, the risk over the lifetime is much higher. I don’t think the risk would warrant keeping a person in prison, but of course a plan for prompt treatment of life-threatening attacks should be in place for all patients with HAE.
My husband has been diagnosed with HAE III and also has Gerd, Hiatal Hernia, IBS, Asthma, allergies to foods and sulfites...lots of things that trigger his HAE attacks. He takes on-demand treatment for his frequent attacks and misses a lot of work as an IT contractor because of his conditions. We are hoping to get him on SSDI and wondered if others have been successful getting approved for SSDI with HAE and other contributing factors? We are also looking for resources and information that can help us get started with the process, if it is worth applying for.
I don’t have any experience with SSDI but don’t see why HAE should be different from any other chronic illness. Of course most HAE patients are able to lead near normal lives, either with on-demand treatment of attacks or preventative therapy. Your husband might speak to his HAE doctor about possible preventive therapies if he is using on-demand treatment frequently and it is affecting his life significantly, as it sounds like it is.
I was diagnosed with HAE 27 years ago -- not sure of my type, but I produce C1E-Inh that sometimes fails to activate. I also have rheumatoid arthritis. This past week I was diagnosed with Myasthenia Gravis. Is there any research out there connecting MG and HAE, since both are B-cell related?
Hereditary Angioedema (HAE) is typically due to loss of C1-inhibitor (also called C1 esterase-inhibitor) function and does not usually involve B-cells or antibodies directly. Patients with type II HAE make C1-INH but it doesn’t work correctly, which sounds consistent with your picture. Rare patients have B cells that make antibodies against their own C1-INH and develop symptoms similar to HAE. This is termed acquired angioedema (AAE). Myasthenia Gravis (MG) is a disorder where antibodies are made against receptors on nerve cells, leading to weakness. I don’t know of any association between either HAE or AAE and MG.
I'm a 36 yr old female. I had angioedema since I was four. I have had the hereditary test, but it came back negative. I live in Illinois, and have been there most of my life. Recently I have started working 1 to 2 weeks a month in Northern California. I noticed during the first trip that my side started hurting. It was in the upper middle of my right stomach. Since then, I have had multiple CT scans and ultrasounds. They do not see anything. I have noticed that it happens every single time I am in California. Could this be an allergic angioedema? If so, how would I even go about getting it diagnosed? And should I even bother if I can find some type of treatment. What kind of treatment options are available for allergic angioedema intestinal reactions?
This would be a very unusual presentation of allergies. Angioedema by itself does not usually present alone but rather is typically accompanied by hives and often wheezing, runny nose, etc. You are getting abdominal pain without an obvious trigger (other than going to California). While possible this seems unlikely to be caused by angioedema due to allergies.
Is it common for people with HAE to have adverse and rare side effects to medication?
People with HAE can definitely have adverse effects from medication but I don’t know of any data that they are more common than in people without HAE. The one exception might be that any form of stress can trigger an HAE attack so that form of reaction might be more common in someone with HAE.
I'm a fifteen year old male I was just diagnosed with HAE a couple of days ago, currently I'm on zantac and zertec. I didn't tell the doctor because I didn't realize it was connected, but when I first started having episodes a couple of weeks back I started to have severe heartburn. Is there anyone out there who can tell me if heartburn and HAE is connected, and is it normal to be on a steroid shot and still have out breaks daily?
It is important to distinguish between angioedema and hereditary angioedema. Angioedema simply refers to swelling, while hereditary angioedema is swelling due to a genetic deficiency in a specific protein. The treatment you’ve gotten (zantac, zyrtec) often work well for “regular” angioedema but don’t work at all for HAE. It sounds like maybe you should discuss further with your doctor as you may not have HAE. I am not aware that reflux (heartburn) is associated with angioedema but use of steroids to treat angioedema can cause heartburn. Unfortunately, with “regular” angioedema steroids are not 100% effective so you can still have symptoms.
Are there any vitamin supplements that will help strengthen the bones of a young teenager diagnosed with HAE?
HAE is not necessarily associated with low bone mass. However all teenagers and especially teenage girls should be sure to get enough calcium and vitamin D in their diet as bone density peeks during the teenage years. The American Academy of Pediatrics recommends a minimum of 600IU of vitamin D per day for children >1 year of age. This can be obtained both from food sources and supplement.
I was diagnosed with HAE in the late 80's, back then it was called angio neurotic edema. I have had the genetic testing several times over the years. My father's family are the carriers, all the children from the males in the family suffer from it. I have had a hard time with getting Danazol because of having a kidney disease. I have been taking Alavert chewable tablets to offset the symptoms, but I have been swelling in the same place a lot lately (my ribs on the left side). I swell enough that it makes my ribs pop and they are sore for days after. Is there any other over the counter medication that I can take? Benadryl doesn't seem to help anymore. I am 45 and the attacks seem to be a lot worse now than ever, and a lot more painful than when I was younger.
Alavert is loratadine, an antihistamine which typically doesn’t help with HAE. Danazol does help prevent attacks but does have many side effects. There are no over-the counter medicines that would help but several new medicines available to prevent and treat attacks. I’d recommend seeing a doctor who takes care of HAE patients to discuss your options. If you need help connecting to an HAE specialist in your area, please contact the US HAE Association (www.haea.org).
I have been suffering from Idiopathic Angioedema attacks regularly since 1986. My current diagnosis is "idiopathic" and I have submitted a Factor XII SNP analysis test (awaiting results). I have had multiple scratch tests, no results. In addition, the epipen is ineffective, so are antihistamines, even doxepin. However Prednisone appears to be very effective in treatment. After a few hours prednisone appears to at least hinder further swelling. Prednisone also seems effective at mitigating GI symptoms. I year ago my C1 test ruled our HAE1 and 2, all C1 levels at that time were good. I still get the attacks and the symptoms match HAE, I don't get itchy or Urticaria. the areas of swelling match. The kind of swelling matches. Antihistamines are ineffective. I have IBS symptoms with the attacks as well. Yet still this is called idiopathic and I am still treated like I'm suffering from an IgE issue instead of a Bradykinin issue. As a result of this swelling, that has gone on for years I've been hospitalized multiple times due to facial swelling and airway collapse. Doctor, I need help. What help is available for those diagnosed as idiopathic?
I certainly sympathize with all the symptoms you’ve had all this time. At this point, we tend to divide angioedema into symptoms caused by histamine (often due to allergies/IgE) and that caused by bradykinin. There is at this point no good test to distinguish between histamine and bradykinin mediated angioedema when test results for C1-inhibitor is normal (it is abnormal in types I and II HAE), unless there is a family history. We mostly rely on response (or lack of response) to medicine like antihistamines and steroids, which are effective only for histamine mediated angioedema. This is unsatisfying to say the least. There are no large trials, but anecdotal evidence suggests that newer HAE medicines are effective for some patients with normal C1-inhibitor and a trial of one of these for your attacks might be warranted. Hope that helps.
My daughter is 13 years old and she has been having swelling attacks for the past year. [Our physicians] had sent us to Rheumatology and finally they referred us on to the Asthma Allergy Immunology clinic. They told me they think my daughter has Idiopathic angioedema. I am so confused. They said her C1 test came back normal but her C4 test has always come back low. In the last month she has been having a difficult time breathing. She complains that it feels like a lump in her throat. She puffs on her inhaler over and over and she said it helps a little. They put her on Zyrtec daily and she takes Mobic. She has had hand, face (eyelids) and feet, ankle, and knee swellings. Some of the pictures I see for HAE are exactly what she looks like especially the hands. What is the difference between Idiopathic and HAE type 3 angioedemas?
Angioedema simply means swelling, so the appearance of both idiopathic angioedema and HAE can be identical. Type 3 HAE has been renamed “HAE with normal C1-inhibitor.” Currently, guidelines suggest it can only be diagnosed if there is a family history or a mutation in the Factor XII gene (which is rare in North America). However, we know many patients with Type I and II HAE don’t have affected family members so this isn’t very satisfying. The C4 can be slightly low in older girls and women. C1-inh could be rechecked during an attack just to confirm it is normal. Otherwise we typically start by treating idiopathic angioedema with antihistamines like cetirizine (Zyrtec). One final thought is that nonsteroidal anti-inflammatory drugs (NSAIDS) like meloxicam (Mobic) can trigger angioedema (and hives) in some patients, so if the swelling correlates with when that started, discuss with her doctors.
I wanted to know what could cause someone's C1 esterase inhibitor level to be lower than normal other than angioedema.
Great question. For all labs, the normal level is based on a set of values from healthy controls. Approximately 5% of values will be either higher or lower than normal, even in the absence of a true abnormality, but these values are usually very close to the normal range. In addition there are some people who carry a mutation in the C1-inhibitor gene who don’t have any symptoms. Finally, there can be errors made by the lab, and C1-inhibitor activity is sometimes affected by problems like the blood not being processes properly, so can be falsely low.
I am a 28-year-old female. Throughout the years, I have experienced mild attacks of angioedema and my doctors have attributed the attacks, when I was a child, to direct contact with particular allergens. However, in the last 12 months, I have developed chronic angioedema and have had swelling nearly every day on multiple parts of my body (lips, arms, legs, hands, feet, shoulders) and have even had stomach/esophagus inflammation attributed to the swelling. Antihistamines do not provide relief, but Singulair has worked and, while it has not prevented all attacks, has made them less frequent and less severe.
A recent test showed my C4 level is normal and my doctor suspects I may have type III angioedema which I understand is associated with estrogen. Just last week, I learned I had an abnormal pap smear detecting signs of HPV and I am scheduled for a biopsy next month to determine if it is cancerous.
My doctor was unable to tell me if there was a relation between the two. Is it possible that the HPV infection, potential pre-cancerous cells that I have developed sometime in the last 12-18 months have caused the chronic angioedema that is now being associated with estrogen? If so, what is the treatment and what type of doctor should I see, as my allergist does not appear to be able to help. Also, once the HPV & pre-cancer cells are treated, should the angioedema attacks subside?
I sincerely appreciate any guidance you can offer. The angioedema has been a significant stressor over the last 12 months that has now been exacerbated by the disturbing results of the pap smear...
Your question is a very interesting one, but unfortunately I cannot give you a definitive answer. The fact that montelukast (singulair) is effective would argue against HAE with normal C1-inh (the new preferred name for type III HAE) since montelukast typically decreases histamine mediated symptoms. There is some indication that various infections and other medical conditions can worsen both forms of angioedema, but it is far from definitive. Clearly, you should have the HPV infection and precancerous cells taken care of, but whether it will help the underlying angioedema is unknown. Histamine mediated angioedema often improves mysteriously after a period of time in any case.
I am a college student, and was recently diagnosed with HAE after a year and a half with it effecting my academic life and social life. I always wanted to pursue medicine, [to become] a doctor specifically, but I feel like the attacks will be seen as a liability. Is that true? Or are there people with HAE who are successful in the medical world?
HAE can indeed affect all aspect of life. However, it should not cause you to give up on your goals! I know of 2 physicians who have HAE and others with HAE who have been successful in many other fields. With new, effective therapies, there is even less reason HAE should be an impediment to achieving your goals. Good luck.
Can HAE affect joints as well? I've been noticing shoulder and elbow stiffness and pain lately, and wasn't sure if my HAE might be affecting them....
Episodes of swelling can cause joint symptoms but not typically ongoing stiffness and pain. I suspect this is unrelated to the HAE.
I'm the first in my family to get diagnosed with HAE type lll. I'm 53. My family all has it. My Aunt, who has no idea [about this disease] and has never mentioned it, is going through so much illness. The doctor thinks that she has cirrhosis of the liver. [Cirrhosis] is what they said my grandmother died from, but she had the swelling issues also, especially stomach, and died in the early nineties. My question is, can HAE have anything to do with [cirrhosis] if never diagnosed? Neither was ever a drinker, by the way.
I am not aware that HAE with normal C1-inh (the new preferred name for type III HAE) is associated with cirrhosis of the liver. Androgens (such as testosterone and danazol) can be toxic to the liver but doesn’t typically cause cirrhosis.
I have hereditary angioedema. I have been suffering with attacks for over 5 years and unable to work because of it for the past 2 1/2 years. I have been working with my doctor to get this under control with no success. Can I, or does anyone else, get disability because of hereditary angioedema? I am 52 years old.
Yes, some patients have gone on disability for this, although it is rarely necessary.
My 17 year old daughter is suspected to have HAE Type III. However, her milder abdominal attacks occur frequently over a 2 week period until they resolve on their own. Of all the HAE information I have read, HAE attacks typically last 3-5 days. Have you heard of attacks lasting the course of 2 weeks when left untreated? Is there a recommended diet for HAE Type III patients? We have recently received HAE medication which will be administered for future attacks.
It would be unusual but not impossible for an HAE attack to last 2 weeks. Of course, with abdominal attacks it is possible that she could be having several attacks that come on so close together they make one long attack. Also, HAE with normal C1-INH (the “new” name for type III HAE) has a wider variety of attack patterns. There is no special diet for HAE patients.
At first my allergist thought I had idiopathic angioedema, however the blood tests taken after I had to gp to ER by ambulance for facial swelling, were not consistent with that diagnosis. The allergist suspects Type III HAE and is referring me to Washington University here in St. Louis. She has suggested an allergist she knows. I looked online, put in a search for “HAE”, and results came up with a rheumatologist certified in allergies, who specializes in SLE, complement, and HAE. What type of doctor usually specializes in HAE?
Most HAE specialists are allergist/immunologist but this is not always the case. As you note, HAE involves the complement system, so rheumatologists may be experts in the disease. In addition, some hematologists, gastroenterologists, and general internists have special expertise, often because they have experience caring for patients with HAE.
My mother has suffered from angioedema attacks for over 30 years but wasn't diagnosed with angioedema until about five years ago. I have suffered from multiple facial swelling attacks in the last few months. The more I research angioedema the more I realize that I have likely suffered from angioedema attacks since I was a teenager with swelling in my legs, feet, abdomen, and other areas of my body, as well as my face. A diagnosis of HAE would actually explain a lot! I would assume we both have HAE and will likely get tested for it soon. Are there certain foods that are more likely to cause HAE attacks? I'd like to know what, if anything, I can do to aid in preventing any future swelling. Thank you!
There is no evidence of certain foods causing HAE attacks. Factors like minor trauma (e.g. bumping your hand) or stress and anxiety can play a role in attacks but most occur for no apparent reason.
I am 21 year old female and have been having strange swelling attacks for 5 years now. When it first started we thought it was an allergic reaction and I was tested for every allergy they could think of. I wasn't allergic to anything so they did blood work, suspecting I had HAE or lupus, and my blood work came back clean. They sent me home with antihistamines and steroids which soon quit helping. My throat swells up about once every few months, which lands me admitted into the hospital for a day or two, but I'm constantly swelling in my feet, ankles, knees, fingers and face. I maybe get a couple days of a break from it but it’s strongly affecting my work and social life. I also get whelps or hives on my hips and belly and arms that itch terribly and grow in size before leaving a huge bruise in those spots. They continue running blood work and coming up with nothing. I've tried keeping a journal of what I eat and wear and what not, but nothing ever matches. Benadryl and ibuprofen have stopped working and I have to continuously carry an Epipen on me. As far as I know no one in my family has history of random swelling or HAE. Please any advice will help. I want my life back. Do I have HAE?
I am sorry you aren’t doing well. It is hard to know for sure, but the fact that you get hives along with your swelling is evidence that your angioedema (swelling) is probably not caused by bradykinin (which causes the swelling in HAE). Patients with HAE don’t get hives with their angioedema with the possible rare exception of a patient who has HAE and hives as separate illnesses. If steroids and antihistamines don’t work, montelukast which inhibits leukotrienes helps for some patients. There was also a paper in the New England Journal of Medicine recently showing that omalizumab, a medicine that blocks IgE, is effective in patients with chronic hives, so that might be another consideration.
My wife recently had an initial crisis with HAE Type III. She is at home now, still recovering.
I do have question if you can help us... She is currently completely off estrogen replacement (she had a hysterectomy last year). She has been on 10 mg of progesterone (Provera) since February 25th. The question is, do you have any knowledge of similar patients who have been able to reintroduce estrogen once they have been on progesterone? The effects of having no estrogen are not pleasant. Thank you for any input you might have, or anyone you would recommend we consult with.
In general we recommend no estrogen in woman with HAE type III (now termed HAE with normal C1-INH). Typically the side effects from lack of estrogen improve over time, like they do in menopause.
I am a patient with HAE since I was 5 years old and I am currently 25 years old. I want to take birth control pills however when I took birth control pills in the past I swelled a lot. From my understanding hormones increase the attacks of swelling. Is there any birth control pill you advice HAE patients to take? Is it known exactly which hormones trigger attacks? If so which ones are they? Thank you.
It is the estrogen that worsens HAE. There are birth control pills that do not contain estrogen (they are called “progesterone only”) and these are recommended for women with HAE who need to take oral contraceptives. Please discuss with your OBGYN if progesterone only birth control pills will work for you.
I have HAE with attacks starting around age 40 and diagnosed 1-2 years after the attacks started. My wife and I are trying to conceive - both of use at advanced maternal/paternal ages (myself - 44, my wife 42). We have one 11 year old son who has not appeared to have any symptoms of HAE and plan to have him tested at some point if symptoms arise. My wife and I have been tested for infertility - she has tested negative for any significant problems. I have provided two semen samples for sperm analysis - both have showed very low count (450K - borderline low is 15 million) and normal morphology of only 1% (of 100%) being of normal morphology. We became pregnant with our son at ages 30 and 32 after 3 months of trying to conceive, could the low sperm count and abnormal morphology be attributed to HAE? Thank-you so much for any information you can provide.
I don’t think this has been studied, but there is no evidence that men with HAE have decreased quality or number of sperm. As noted above, many patients with HAE, men and women, like yourself, have successfully had children. You should speak to a fertility specialist to see if there may be some other underlying issue that is preventing you and your wife from getting pregnant.
My husband and I are having a hard time getting pregnant- could it be related to my HAE?
I am not aware of any studies that would confirm this fact, looking at this question, but many patients with HAE have become pregnant, so my best guess would be these two items are not related. You should speak to a fertility specialist to see if there are any other issues that may be preventing you from getting pregnant.
Concerned with all the push for the flu vaccine this season: my mom and several other family members have HAE, should they get the flu vaccine, or be aware of any complications specifically with HAE & flu vaccines? Thanks!
Thanks for the timely question! I definitely recommend that patients with HAE get the influenza vaccine. Viral illness, such as the flu, can trigger HAE attacks and the vaccine, while not perfect, will provide some protection. There is no evidence that patients with HAE have a higher risk of problems with the flu vaccine which is safe for almost everyone. Either the injection or the mist are effective in preventing the flu.
What are the long-term effects on a female HAE Type I patient using Danocrine/Danazol since the age of 14?
Although the use of steroids, such as danazol, can be very helpful for patients with HAE, they are associated with a long list of side effects. Among the most common of these are virilization (or the development of typically male characteristics, like body and facial hair), weight gain, menstrual abnormalities, increased levels of liver enzymes, and increased cholesterol levels.
Patients on steroid medicines, but especially women, should consult with their doctor about safety concerns with the use of steroids. Patients should use the lowest possible dose as recommended by their doctor. Cholesterol levels and liver enzymes should be followed regularly and patients should get an ultrasound of the liver regularly to check for adenomas.
With the advent of newer HAE therapies to prevent or treat acute attacks, some patients may be able to decrease their steroid dose and use newer therapies to prevent or treat HAE attacks. Patients should speak with their doctors about the range of available therapies to decide what is right for them.
I have Hereditary Angioedema Type III and am still trying to figure out what constitutes an attack and what doesn't. I have noticed that an increase in size in my upper abdomen, diarrhea and terrible pressure seemed to be hallmarks of any swelling anywhere else... Is this "normal"? Also, it looks like stress and/or physical therapy from an injury is bringing on these attacks. I am still trying to learn this disease so any insight would be appreciated.
It is certainly possible that these episodes are HAE abdominal attacks. During abdominal attacks, the walls of the intestines swell and bloating, pain, vomiting and diarrhea are all common symptoms. And yes, both stress and minor physical trauma, which you could experience during physical therapy, can be triggers for attacks.
I have HAE type II. Can I live a normal life?
Patients with HAE can lead normal lives, including going to school, pursuing their chosen career and having a family. This has become much easier recently with approval of medicines for both prevention and treatment of HAE attacks. You should discuss with you doctor what your options are and which therapy or therapies are most appropriate for you.
I have Hereditary Angioedema (HAE). Am I able to donate plasma and blood even though I have this condition?
Having Hereditary Angioedema is not a contraindication for blood or plasma donation, but make sure to note your diagnosis when you donate.
In August 2002, I had my first life threatening attack. It was treated as an anaphylactic shock. I was taken to the Emergency Room as a level 4 emergency. I was not breathing well and my joints, hands, feet were swollen. I had, for years prior, had little attacks that caused rashes in different areas, they were hot, like sunburns, uncomfortable, itchy, painful, but I always had sharp abdominal pains as my alarm to an attack beginning. It was diagnosed as Idiopathic Anaphylaxis, but as I read the site HAEHope.com, I see so many of my symptoms, including Rheumatism. I am afraid to take this finding to my doctor, I am already treated as a hypochondriac! Is there a way for them to see all of the testing and different doctors that I have been through for an answer to what is going on? Is it possible just to ask for the test for this?
While some patients with HAE have a rash that precedes attacks, rash alone is not a typical sign of HAE. However, given your history I’d strongly encourage you to see your doctor and discuss possible testing for HAE. You should be able to request results of all doctors’ visits and all testing that has been done before your visit. You can read more about the types of tests that you can request to determine if you have HAE at www.haehope.com/about-hae/diagnosing-hae.html.
What blood pressure medicine can I take with HAE?
Patients with HAE should not use medications from the class of drugs called ACE-inhibitors, where ACE stands for 'Angiotensin Converting Enzyme'. This is because ACE breaks down bradykinin, which is a chemical produced during HAE attacks and thought to cause the swelling and pain associated with HAE. Because ACE-inhibitor drugs block the activity of ACE in the body, higher levels of bradykinin might build up in the body. As a result, use of an ACE-inhibitor medication might lead to more frequent or severe HAE attacks. However, there are other types of blood pressure medications that do not have this effect. Talk with your doctor about what medications should be avoided and what medications could be used to treat high blood pressure as alternatives to ACE-inhibitors.
I would like to be provided with a list of Blood pressure medications that can bring on an attack of HAE. I have had several attacks in 2011 brought on by BP medication. Where could I find such a list.
ACE (Angiotensin Converting Enzyme) inhibitors are a type of blood pressure lowering medicines that may trigger HAE attacks. It is conventional for ACE inhibitors to have generic names ending in “-pril”. Examples include lisinopril, captopril, enalapril, quinapril, perindopril, ramipril, benazepril, trandolapril, and moexipril. However, this is not a comprehensive list of ACE inhibitor drugs, and moreover, it should be noted that the brand names for these medications do not end in “-pril”. In any case, please be sure to talk with your doctor regarding your HAE and what medications you should avoid.
My 13 year old son just got diagnosed with Hereditary Angioedema. He had a major abdominal pain. CT scan indicated fluid in the cavity and spleen inflammation at 14.5 cm. My question is: Is having an inflamed spleen part of the Angioedema or are these two separate problems? [The spleen] has been inflamed for 4 weeks now. Also, Berinert was given to my son at the Hospital through infusion. It took the pain away in less than 2 hours, which was incredible. My son had been on Morphine for 2 days. So does this medicine only help with the pain, but does not reduce swelling?
The spleen is not typically a site of swelling in Hereditary Angioedema (HAE). Acute HAE attacks typically affect the face, genitals, hands, feet, abdomen, and throat. Additionally, treatment of an acute attack with BERINERT® or other medicines approved for treatment of acute HAE attacks may result in improvement of both swelling and pain (please see BERINERT full prescribing information for approved indication). Certainly by 4 weeks any swelling should have resolved. I'd also suggest seeing your son's doctor to discuss if more should be done to evaluate the swelling of the spleen.
I follow a 6 year old little girl with HAE. We are finding it very hard to get answers and would like names of specialists in this condition. Are there any doctors we can contact for advice/ assistance? Her quality of life is not good at this time. Can you help?
I agree that it can be hard to get answers about HAE as it is a rare condition and rapid progress is being made in the treatment of the illness. US Hereditary Angioedema Association (www.HAEA.org) can be helpful in directing you to an expert in your area. Please visit Patient Services Team page (http://www.haea.org/contact/patient-services-representatives/) to find your local representative.
My family has HAE and my mother is 85 years old, she has been on Danocrine for many years very successfully. But now with low estrogen due to ageing she is developing male signs physically. Is there something else she can take?
Yes. There are a number of new therapies which can be used to prevent or treat acute attacks of HAE. It is important that she meets with her doctor, who is managing her HAE to discuss all available treatment options and have a plan in place before making any changes in therapy.