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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.
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.
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.
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.
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.
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.
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.
While not typical, some patients do tend to have attacks at night for reasons that are not understood.
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.
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.
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.
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 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.
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 visiting http://www.haea.org/contact/patient-services-representatives/.
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.
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.
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.
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 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.
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.
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.
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.
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).
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.
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.
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).
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.
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.
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.
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.
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.
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.
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.
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
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.
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.
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.
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 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 HAE Association (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/
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.
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.
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.
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.
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/.
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.
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.
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.
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.
It is thought that testing is most reliable after 1 year of age so I typically test then.
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.
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.
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
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.
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.
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.
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.
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.
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.
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.
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 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.
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.
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.
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.
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.
Episodes of swelling can cause joint symptoms but not typically ongoing stiffness and pain. I suspect this is unrelated to the HAE.
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.
Yes, some patients have gone on disability for this, although it is rarely necessary.
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.
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.
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 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.
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.
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 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.
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.
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.
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.
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.
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.
Having Hereditary Angioedema is not a contraindication for blood or plasma donation, but make sure to note your diagnosis when you donate.
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.
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.
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.
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 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.
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.