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ACE Inhibitor
Class of medicines used to treat high blood pressure and other diseases.
Activating factor
A functioning plasma protein that works in the coagulation pathway to help form a clot.
Anabolic steroid
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.
Antifibrolytic agent
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.
Attenuated androgen
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.
Bradykinin
A protein, which when released, causes blood vessels to expand (dilate) and leak fluid, such as serum, into surrounding tissue.
C1 inhibitor
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.
C1-INH
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.
Cleave
To cut; to split
Coagulation pathway
A process in which blood cells work together to form a clot.
Complement system
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.
Drug formulary
A list of prescription medications selected for coverage under a health insurance plan.
Edema
Swelling caused by an excessive amount of fluid in the body tissues.
Endothelial cells
A thin layer of cells that line the surface of blood vessels.
Enzyme
A protein that changes the rate of chemical reactions in the body.
HAE
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.
Hereditary Angioedema
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.
High-molecular-weight kininogen
HMWK, a protein that acts on the inflammation and coagulation processes; inactive until it is cleaved by kallikrein and in turn, releases bradykinin.
Hypotension
Low blood pressure.
Inflammatory pathway
A process in which the body responds to an injury either inside or outside of the body.
Inhibitor
That which reduces, prevents or stops; i.e. a substance that stops enzyme activity.
Kallikrein–kinin system
A system of proteins in the blood that has a role in the inflammatory pathway; through this system, bradykinin is released.
Kinin
A protein that is a component of the kallikrein-kinin system.
Laryngeal attack
An HAE attack that affects the larynx (throat); this can block or close the airway, leading to difficulty breathing and, potentially, death.
Liberate
To release
Plasma kallikrein
An enzyme present in blood plasma, urine and tissue; responsible for cleaving high-molecular-weight kininogen (HMWK), which then releases bradykinin.
Prekallikrein
Precursor to kallikrein; inactive until it cleaved by activated factor (specifically, activated factor XII) to generate active kallikrein.
Preventive therapy
In HAE, medicine taken to prevent attacks.
Prodrome
One or more physical warnings of an HAE attack; can appear as a rash or a feeling of skin tightness.
Protease
An enzyme that breaks proteins down into a simpler form.
Proteolytic cascade
A step-by-step process in which proteins are broken down into simpler forms.
Receptor
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.
Serum
The clear, watery, fluid-component of blood that resembles fluid in a blister.
Subcutaneous
Beneath the skin.
Substrate
A molecule or substance acted upon by an enzyme.
Trigger
In HAE, something that causes an attack. Stress and trauma are two common HAE attack triggers.
Vascular permeability
The capacity of blood vessels to allow fluids or molecules to pass in and out of the vessel.
Vasodilator
A substance that opens, or dilates, blood vessels; e.g. bradykinin and nitric oxide.
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Ask the Expert

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.

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Attacks

NEW! - 4/30/15

I am 36, female. I started having angioedema when I was about 10. My mother and grandmother have the same problems. The attacks of angioedema are not frequent, probably 4 or 5 a year, but I have very bad physical urticaria that responds poorly to antihistamines. It is worse in the second phase of the cycle, present on most days. The angioedema manifests as facial swelling, along with pain and swelling of the hands and feet. I have only had abdominal symptoms once and never had tongue or throat swelling. I don't have any known drug triggers. I have had low positive antinuclear antibodies (ANA) 1:128. However I have never had complement tests etc. done. Is it possible that this is an allergy rather than HAE as the symptoms are not very severe or frequent? 

Rarely, allergies can present with angioedema alone, but more typically they are associated with other symptoms like hives, wheezing, runny nose, etc.  Also, most people with allergic reaction 4 or 5 times a year typically recognize what triggers their allergies (either food or environmental exposure).  So while not impossible, your case doesn’t sound typical for allergies.

2/13/15

Is it true that someone who does NOT have HAE can have an attack of angioedema if he has low enough serum levels of Alpha-1 antitrypsin (AAT)?

It does not seem like low levels of alpha-1-antitrypsin are a risk factor for angioedema.  HAE is not the only cause of angioedema which can be caused by allergies, use of certain medicines or come on for no reason (idiopathic).  I could find one case report of a patient with angioedema, normal C1-inhibitor (ruling out HAE) and low AAT function but that is it and the report didn’t demonstrate that the low AAT function was what caused his episodes of swelling.

9/22/14

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.

8/21/14

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.

8/21/14

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.

6/16/14

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. 

5/6/14

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.

5/6/14

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.

4/17/14

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.

4/17/14

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.

4/17/14

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.

3/13/14

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 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.

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 Angioedema are 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.

Diagnosing HAE

NEW! - 4/30/15

My name is Danielle and I have been having symptoms for the past 7 years. I have weekly outbreaks of swelling on feet, hands, lip, eyes, arms and legs. I have had my throat almost close 6 times now. I live in Hawaii so it's hard to see anybody with knowledge. My C4 complement was 26 and my C1 Esterase inhibitor protein was 24. I am waiting on the lab in Salt Lake to process my C1 esterase inhibitor activity, but in 2007 my test showed 111. I am thinking I am type II or III depending on when the lab comes back. What should I do next? I went to a specialist on Oahu but she has never seen it in her office. My GP is an allergist is on board to help in any way. I feel like I am in limbo here and not sure what the next move should be. Antihistamines and prednisone is not the answer! I have had 3 allergy tests in my life that came up with nothing. Please help Aloha, Danielle.

Typically in the past we’ve referred patients looking for specific providers to the HAEA.org. They offer physician referrals who specifically treat HAE patients.

NEW! - 4/30/15

My 4 year old daughter has had a history of unexplained stomach pain. About a month ago she had painful swollen hands that lasted a day or two. She is now battling severe itching that she describes as needles ripping through her skin all over her body. No rashes but gets red cheeks. Antihistamines or prednisone have not worked. Labs showed low C4 with C1 normal. Her allergist believes it may be type III HAE but says she is too young for any of the medications. Does this diagnosis fit? Is there anything that can be done for this type of itching? I live in CT, who can treat children? Thank you.

It would be very unusual for a girl of this age to have type III HAE, which is now called “HAE with normal C1-INH”. Itching is not typically a sign of HAE, although 4 year olds sometimes have trouble describing what they are feeling/experiencing.  Antihistamines are typically used for itching but unfortunately are not always effective. We refer patients looking for specific providers to the HAEA.org.

2/13/15

I am trying to diagnose myself because I haven't had any luck with so many doctors. I have attacks in my stomach, my stomach hurts a lot and I have diarrhea almost everyday. My chest hurts also like it’s hard to swallow, kind of like I’m swallowing something too big for my throat. I have hives/welts EVERYDAY. They are very itchy. I scratch all night long sometimes. They are all over my arms, legs and torso. Some are very large and my hands and feet swell and HURT. If I have a hive in my foot I can barely walk. My lips and eyelids swell occasionally.  I have been diagnosed with allergies and tried numerous medications to no avail. The only thing that makes it go away is steroids but the doctors will not let me stay on them for long and when the steroids are gone the hives come back 10x's worse. The reason I thought maybe HAE is my grandfather had the same hives/welts almost every day of his life. Do people with HAE also have itchy welts? 

HAE is not typically associated with hives (also called welts or urticarial). There are 2 kinds of steroids- anabolic steroids and corticosteroids.  Anabolic steroids (examples are stanzalol and danazol) help patients with HAE, probably by increasing the amount of C1-inhibitor protein produced by the liver and are also the steroids used by athletes to increase muscle size.  They have lots of side effects like liver disease, elevated blood lipids, severe skin problems like acne and virilization in women (facial hair, balding, deepening voice).  Corticosteroids work to suppress inflammation and are utilized in diseases like asthma and rheumatoid arthritis.  Corticosteroids are effective for hives but not for HAE, so if the “steroids” you’ve received and had help from are corticosteroids (examples are prednisone, dexamethasone, and methylprednisolone) it would make HAE unlikely but chronic urticarial and angioedema more likely.

2/13/15

At age 12, several months before she got her first period, my daughter began having episodes of angioedema, waking up with swollen lips/tongue and sometimes more severe swollen lips/tongue/inside of ears/hives/diarrhea/vomiting.  We often had to give an epi pen and go to the ER; sometimes it happened shortly after eating (often after ice cream) but more often it was 4-5 hours after eating and would wake her in the middle of the night. Her doctors did lots of skin and blood testing (skin testing was always vaguely positing but blood testing to dairy, peanuts, etc. was negative). Her doctor still decided to have her be dairy and peanut/tree nut free.  It has been 2 years now and the episodes have gotten less frequent. She takes a high dose of 2 different antihistamines twice a day. The attacks in the past have often happened after stressful or emotional events. She also gets swelling of hands/feet in cold weather. She still has attacks of abdominal cramping and diarrhea several times a month.  We recently switched allergist because my husband and I are not convinced it is a food allergy.  Our new allergist agrees and thinks she has dermatographia and chronic uticaria.  I stumbled across your website and had a couple questions.  Does this sound like it could possible HAE?  No one in our family has similar issues though.  If not HAE, is there anything else that should be on our radar?  Any testing we should get done?  (All thyroid testing has been fine). Thanks for your help!

I am glad the episodes are getting less frequent!  I agree this would not be typical for food allergy.  It is possible this could be HAE although the hives going along with swelling would be unusual.  That said, HAE often gets worse around onset of menses in women and about 1 out of 4 cases has no family history.  I think your current allergist is likely on the right track with the diagnosis of chronic urticarial and angioedema (which often go together in patients without HAE) and dermatographism.

.

2/13/15

Hello, I suffered from hives and swelling from the age of 21-29. I have never heard of HAE and I guess my doctors did not either, because it was never mentioned. The episodes stopped and I thought I was cured, but here I am 44 years old and the hives and swelling are back and worse than they were 15 years ago.  I was just admitted to hospital a couple days ago because of throat swelling. I spoke to my brother and he is having the same symptoms. Could I have HAE?  I also had some blood tests done and my estrogen level is low. Does pre menopause make the HAE symptoms worse?

You could have HAE, but typically patients with HAE don’t have hives that go along with the swelling, making it unlikely.  The fact your brother has similar swelling would make a genetic disease like HAE more likely, particularly if one of your parents had angioedema as well.  HAE can get worse around menopause with one study showing about 1/3 of patients getting worse, ½ staying the same and the rest getting better. Estrogen replacement therapy is a known trigger for HAE so if that is started at the time of a menopause in a woman with HAE, we’d expect symptoms to get worse.

11/14/14

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) and steroids.  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.

9/22/14

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.

8/21/14

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

8/21/14

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.

8/21/14

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.

 7/17/14

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.

7/17/14

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.

7/17/14

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.

7/17/14

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.

6/16/14

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).

06/16/14

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. 

06/16/14

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.

6/16/14

 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).

4/17/14

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. 

3/13/14

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.

2 questions:

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.

3/13/14

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.

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.

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.

Parenting

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.

10/21/14

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.

8/21/14

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.

6/16/14

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.

4/14/14

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.

4/14/14

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.

3/13/14

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 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.

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.

Other

NEW! - 4/30/15

My mother has a problem with Quincke's edema/Angioedema so she can’t take medicines which include aspirin. Every time she has high or low blood pressure she can’t take any pill, because of edema. Which medicines can she use in this situation?

While it is impossible for me to give specific advice, the class of medicines for high-blood pressure that typically cause angioedema is angiotensin converting enzyme inhibitors (ACE-inhibitors for short).  Other classes of medicines for high blood pressure are usually well-tolerated although a class related to ACE-inhibitors called angiotensin receptor blockers (ARBs for short) may also cause angioedema.

NEW! - 4/30/15

Hi. I am 46 years old and have been suffering with facial pain and swelling for a few years now.  I have been to several doctors and have no answers.   I have a sibling who also has symptoms.   What kind of doctor would be the best to see to have a C Workup done? 

An allergist/immunologist would be the best person to see.  Not all are experts in HAE but they should be able to do the workup for HAE.

11/14/14

Today my C1-INH test came back with a 16 on C1 and a normal reading on C4 suggesting HAE type 1. I am 54 diabetic, etc. with disability from neck/back issues and I am female with other issues. I started swelling March 2014 after one bite of pineapple.  There had been a lot of swelling of lip or tongue (mainly tongue) since. Its been about 6 weeks since last one which was bottled water with a nexium. So I quit those and 10 days before I got my blood drawn I had a steroid shot for sinusitis, ect. Could that steroid cause a falsepositive C1 or can anything else cause it to be wrong? It is So rare and hard to believe. Sometimes Benadryl helps. How likely could I smother to death(never been in throat) Any advice please? Should I freak 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 seingseeing 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 diespatients sometimes die of HAE attacks in the past, this should not occur anymore as there are safe and effective therapies to treat attacks.

11/14/14

My 16 yr. old daughter has a mediport for her treatment of HAE. She has had to have 3 replacements now, due to an infection in the mediport. We just had another one done a few days ago. One taken out and another put in all in one surgery. I was wondering is this common for the infection to happen in the port? Could her body be rejecting the port due to her HAE? And do you know of another alternative to the mediport? FYI, she cannot 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 subcutaneously for prevention of attacks are being tested.

 11/14/14

Hi, I 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 occasions where he has severe abdominal pain but he attributed it to his GERD. What lab work can be tested to confirm the diagnosis.

My husband also has Psoriasis, it has become severe, and he is about to begin medication for it. Is 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.

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.

10/21/14

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.

10/21/14

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.

10/21/14

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.

9/22/14

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.

8/21/14

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.

7/17/14

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.

 

 6/14/14

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.

6/16/14

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.

6/16/14

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.

5/5/14

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.

4/17/14

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).

3/13/14

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.

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 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.

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 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 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.

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.

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.

If you need help connecting with an HAE specialist in your area, the US Hereditary Angioedema Association (www.haea.org) may be able to help.   Please contact an HAEA Patient Support Services representative in your area by visitinghttp://www.haea.org/contact/patient-services-representatives/

Andrew J. MacGinnitie, MD, PhD

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