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 visiting http://www.haea.org/contact/patient-services-representatives/. 

I was diagnosed with HAE in November of 2011 and have been on Cinrzye (2 infusions per week) since then.  My doctor just switched me to Berinert because the Cinryze wasn't helping (same prescription, twice a week infusions).  Plus I'm taking Firazyr for any in between swellings.  I have a question. I am swollen almost everyday even with the infusions. Whether it be my feet (almost every day), legs (almost every day) both legs swell at the same time from my knees to my upper thighs, abdomen (happens about twice a month) or my throat (extreme difficulty swallowing/eating food/cheeks get puffy). Is this common for HAE patients? Or is there something else that could be causing this?  I'm frustrated with the constant leg swelling (never swollen in the calves or shins) and the throat issues (affecting my daily life).  My lymph nodes on the right side of my throat constantly swell up and then go back down too. Do you have any advice on where to go from here?  In November of 2011 my C1 esterase levels were 1 point below normal.  All the other levels were normal.  I tested again last month and all the levels were normal so I'm confused.  My family also was tested and their blood results all came back normal as well.  I noticed the bad leg swelling after pregnancy where my upper thighs, knees and feet where 3 times their size.  Confused, frustrated, and would love to hear back with any advice.  Thanks.

It is very unusual for patients with HAE to have continual swelling. Typically patients have acute attacks with intervening periods without symptoms, although some patients can have very frequent attacks.  You note that at one point your C1-inhibitor (C1-INH) level was slightly low but at another time it was normal and other testing has been normal.  Again, this is unusual for type I HAE as C1-INH levels are consistently low.   Finally, HAE typically shows significant improvement with prophylactic use of C1-INH (Cinryze).  Given all these unusual features of your illness,  I'd suggest you see someone who specializes in HAE to reevaluate whether you have typical HAE and if something else might be causing the swelling.  If you need help finding an HAE expert in your area, please visit www.HAEA.org.  Their team of Patient Services experts can help connect you. Find your local representative here.

My dentist says I need a root canal - should I put it off? I'm afraid it will trigger an HAE attack?

A lot of HAE patients put off surgery or dental treatments because they're afraid it may trigger an attack. Talk with your doctor - there are treatments available that you can take short-term, before a procedure, to help prevent an attack.

During an internal abdominal swelling, does full distension of the abdomen occur or can it be just slightly bloated to be considered as a HAE attack?

The degree of abdominal distention seen in HAE attacks is be quite variable and can include mild or even no visible distension.  Abdominal attacks of Hereditary Angioedemaare due to edema (swelling) of the walls on the gastrointestinal tract, especially the intestines.  This leads to the characteristic pain seen with these attacks and can also lead to vomiting and diarrhea.  Depending on how much of the intestine is swollen, the abdomen will be visibly distended to different degrees.  Distension may be more obvious in thinner patients as well.

Unfortunately, the signs and symptoms of an abdominal HAE attack can mimic those of illnesses such as appendicitis or other problems within the abdomen and in the past has led to unnecessary surgery for HAE patients.  It is important for HAE patients to let health care providers know about their diagnosis so this doesn't happen.  Also, newer ways of imaging the contents of the abdomen such as CT scans and ultrasound can help distinguish HAE attacks from other problems while avoiding surgery.

Since May I started getting hives and swelling. It has been a very painful experience. My face would swell up and my throat did a few times as well. Antihistamines do help but do not take it away. And just recently I have discovered that workouts at the gym (cardio classes) help to control the symptoms as well. So at the moment I am only taking antihistamines. But if I can't get to the gym for a few days the hives do get worse. Should I be considering medication? Also is there a gene test to be absolutely sure this is what I have?

The combination of hives and swelling (angioedema) is typical of a reaction mediated by histamine, and is not suggestive of hereditary angioedema.  I am not sure why exercise helps control your symptoms, but it has many other benefits so I'd keep it up.   Antihistamines are the first-line of treatment.  There is no need for genetic testing.

I have been diagnosed with allergies.  However the allergens do not line up with the attacks.  I have had this for 7 years now.  I am a teacher and I had to leave earlier in the week, because of a flare up.  This has ruined my life before and is starting to again.  Please help me find a way to treat my condition.

I am not 100% sure if it is allergies or HAE which are causing you the problems.  If it is the allergies, there are many effective therapies including antihistamines, nasal steroids and allergen immunotherapy (aka allergy shots) that can treat the allergies.  You could start with your primary care provider and then see an allergist, if need be.  If it is the HAE that is causing you the problems, you should see an allergist as soon as possible, ideally one with experience in treating HAE.  There are three medicines now available that can treat sudden HAE attacks once they start and one that can be used to prevent attacks.  They each have their own pros and cons so you should discuss with your allergist, but an effective treatment strategy can now be developed for all or almost all HAE patents.  If you need help finding an HAE expert, please visit the 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/

I have a low c1 esterase inhibitor, but fairly normal c4 levels.  I started seeking help with an allergist for a chronically swollen tongue (for several years).  I do get occasional lip swellings.  I just had my bottom lip swell for 2-3 days after quite a bit of sun exposure.   My eyes get very puffy after crying, and that lasts up to 24 hours.  My question is, although my labs point to HAE, but I do not have "classic symptoms", could I possibly have the gene mutation, rather than hereditary?   At what age would symptoms begin?  I am 48.   My fear is having my minimal issues dismissed, yet I have a case that could worsen eventually?

I have very caring doctors, however none know much more than I about HAE.  Additionally, I am getting a partial thyroidectomy, due to a mass, to confirm it is benign.  I have read that HAE and low c1 can be precursors for lupus and lymphoproliferative disorders.  Tongue swelling can be thyroid related, as well.

I had my gallbladder removed 2 months ago, and had platelets on standby, per anesthesia.  I worry about the upcoming thyroid surgery.  I am an RN of 23 years, in graduate school, to be a nurse practitioner.   Of course, I would have the not text book symptoms....   Thanks for any answers you can give me!

First, let me note that I cannot give medical advice about specific cases via the internet as that does not represent good medical practice

In general, about one-third of patients with HAE do not have an affected family member.  In these cases, the patient with HAE may have a new mutation (also referred to as a “de novo” mutation) in the gene coding for C1 esterase inhibitor.  Clinically, the disease is indistinguishable from patients with a family history, although it may be diagnosed later.  C4 levels are typically thought to be low in patients with HAE, but some studies have shown a fraction of patients with normal C4 levels in between attacks.  The C4 level is almost always low during attacks. Finally, the severity and frequency of attacks varies widely between affected individuals.  While many HAE patients have symptoms and are diagnosed earlier in life, there have been some cases where symptoms present later in the patient’s life and, at that time, the diagnosis is made.  Therefore, mild or infrequent attacks do not preclude the diagnosis; there might be other conditions that are contributing factors  It is important to connect with your doctor for a full, comprehensive examination.  If an individual has HAE or thinks they might, and are not happy with the care they are getting, I’d suggest seeing an HAE specialist, even if for only one visit to sort out the issues.  The HAEA can be very helpful in identifying a specialist in a given area.

32 years ago I was misdiagnosed at the age of 36 with tongue swelling as having a mold allergy.  I have had a handful of attacks each and every year since, including just recently.   Today I now know that what all of those allergists told me years ago was incorrect and that I have HAE, although not sure what type.  My questions are twofold.  Blood tests are going to be done, particularly with my next attack.  Do you recommend any type of medications  in the interim?  Secondly, I have 3 children all in their 30s.  No symptoms of any kind with them. What are the chances they will have HAE?  No one in our family history ever had this.

Unfortunately, it can take years for many patients with hereditary angioedema (HAE) to be correctly diagnosed.  Most patients with HAE have a defect in a protein called C1-inhibitor.  There are two well-known types of HAE - Type I HAE is when not enough of C1-inhibitor and Type II HAE is C1-inhibitor that doesn't work properly.  There is another type of HAE that also causes angioedema (or, swelling) which is called Type III HAE.  Unlike Type I and II HAE, patients with Type III HAE have normal levels and function of C1-inhibitor but swelling presentation looks similar in the three HAE types.  A blood test can determine if a patient has Type I or II HAE or some other cause of swelling.  Possible treatments will depend on the results of the test.  The child of a patient with Type I or Type II HAE has a 50% chance of having HAE.  Most experts would recommend testing children whose parents have Type I or Type II HAE, although almost all people with HAE have symptoms by the time they are in their 30s. Patients who are diagnosed with HAE should speak with a doctor about the available therapies to prevent and treat attacks of HAE.

Is it possible to have HAE even though the blood tests come back negative for it?  My daughter has tested negative but has all the symptoms.

There are many reasons why people have angioedema (swelling) only one of which is Hereditary Angioedema (HAE).  Some people may have symptoms that are typical for HAE but not have a defect in the C1-esterase inhibitor, the enzyme responsible for HAE Types 1 and 2.  In cases where there is also a family history, some physicians with expertise in HAE may make a diagnosis of HAE Type 3, although, in most cases, there is not definitive test for this type of HAE.  I’d recommend your daughter see an allergist with expertise in angioedema, including HAE, to discuss the different possibilities.

About 10 years ago, around the age of 48, my husband had a swelling in his genitals that came on very quickly and started with severe itchiness.  He has continued to have swelling in different areas of his body mostly in the face and lips about a month ago he had his first swelling in his throat.  His allergist calls this angioedema and is treating him with a steroid and various antihistamines. Is there a test to diagnose this as HAE?  There is no one else in his family, that we know of, that has HAE and his doctor says it's an allergic reaction but when he was tested for allergies, nothing was positive.   Is this HAE as opposed to regular angioedema?  Is this something that should be treated by an allergist or a rheumatologist? Thanks in advance for any information you can give us.

Angioedema simply refers to swelling and there are various types of angioedema that can be due to a number of causes.  In hereditary angioedema (HAE), there is not sufficient amount of properly functioning C1 inhibitor protein.  This leads to low levels of a serum protein called C4.  A test for C4 levels can be performed to help with the diagnosis of HAE.    In addition, a test for the amount and function of C1 inhibitor can help to determine the type of angioedema. 

If angioedema, or swelling, is accompanied by itching it is usually not due to HAE.  When no cause is found for angioedema, it is called idiopathic. Idiopathic angioedema is often but not always associated with urticaria (also called hives or welts).  Treatment is typically with antihistamines with potentially other medications, if needed.  This is effective for most patients, although higher than usual doses are often needed.  Although hives and swelling are often found in allergic reactions, idiopathic urticaria and angioedema are not generally due to an allergic reaction.  Typically idiopathic angioedema is treated by an allergist, but dermatologists and rheumatologists may also treat this disorder.

I am looking for help with my daughter who has been diagnosed with angioedema.  Even though her C1 inhibitor looks normal, all of her symptoms point to hereditary angioedema.  We traveled to a local major hospital in hopes of some answers and solutions but still have questions.  Her family doctor had her on an immunosuppresant antihistamine and a leukotriene receptor agonist.  The doctor at the major hospital has put her on a steroid and other antihistamines.  My daughter is an active healthy 14 year-old and this has really been hard on her to deal with and understand.  Any help you can give us would be appreciated.

Angioedema is simply swelling and there are many types of angioedema that can be due to a number of causes and sometimes it has no obvious cause, which is referred to as idiopathic angioedema.  Many patients with angioedema that is not due to hereditary angioedema also have urticaria, or hives (welts).  Patients with urticaria and angioedema often respond to medicines like steroids, and antihistamines. 

There are various ways to get tested for different types of angioedema.  In hereditary angioedema (HAE), there is not a sufficient amount of properly functioning C1 inhibitor protein.  This leads to low levels of a serum protein called C4 and that can be used to screen for HAE.  In addition, the level and function of C1 inhibitor can be measured to determine the type of angioedema. 

It is important to talk to your physician about doing a proper test to get an accurate diagnosis.  If you are looking for an HAE specialist in your area, the US Hereditary Angioedema (www.haea.org) may be able to help connect you to one.  Please contact an HAEA Patient Support Services representative in your area by visiting http://www.haea.org/contact/patient-services-representatives/. 

I was diagnosed with Type III hereditary angioedema last year. My father also suffers from attacks although they are much less frequent than mine. He is terrified of doctors and refuses to be tested. Your website states that Type III only affects women; however my specialist told me that recent studies have shown it exists in men, too. I was just wondering if he was correct and if that means my father had Type III and I inherited it from him as this seems like the simplest explanation.

While Type III hereditary angioedema (HAE) has been mostly seen in women, there are now reports of Type III affecting men as well.  In a fraction of patients, primarily from Europe, a defect in the gene that codes a protein, called Factor XII, seems to cause Type III HAE, but this has not been found for many patients.  Estrogen, a female hormone naturally produced in the body and can be found in some medications, such as birth control pills, seem to trigger Type III HAE attacks, along with Types I and II attacks.   Since the genetic basis underlying Type III HAE is unknown, it is impossible to know for sure if you inherited it from your father, but it is certainly possible. 

HAE runs in my family, and I've had swelling in my hands recently. Is there a way to know for sure if I have the disease?

Any doctor can perform a test to check your C4 level. C4 is a protein that is part of the body's complement system, a group of proteins that move through your bloodstream. They work with your immune system and play a role in the development of inflammation. If your C4 level is normal during an attack, that basically rules out HAE. If your C4 level is abnormal, you should see an HAE specialist.

I have HAE and recently got married. My husband and I would like to have children; will our children have the disease?

Not necessarily. If one parent has HAE, there is a 50% likelihood that his or her child will have hereditary angioedema, too. Most diseases are recessive - that means that you need 2 "bad" copies of the gene for the disease, one from each parent, for the child to develop that disease. But HAE is what's known as an autosomal dominant disease —  you only need one "good" and one "bad" gene for that child to have the disease.

I have HAE and I am 32 years old. I want to know if it is possible to conduct a gene test about our disease. I want to have a healthy baby and I read about pre implantation genetic diagnosis. Is this possible? Thank you very much!

Decisions about family are very difficult for patients with HAE.  HAE is a genetic disease and 50% of children of HAE patients will have HAE. A new option that you mention is pre-implantation genetic diagnosis.  In this procedure, in vitro fertilization is used and then the developing embryo is checked for the genetic mutation that causes the disease of interest.  The embryo is only implanted in the mother if it is free of the genetic mutation causing the disease. 

I would recommend setting up an appointment with a genetic counselor to discuss the issues related to inheritance and possible options.  If prenatal diagnosis is an option, this could be discussed with a fertility specialist. 

What are the long-term effects on a female HAE Type I patient using Danocrine/Danazol since the age of 14?

Although the use of steroids, such as danazol, can be very helpful for patients with HAE, they are associated with a long list of side effects.  Among the most common of these are virilization (or the development of typically male characteristics, like body and facial hair), weight gain, menstrual abnormalities, increased levels of liver enzymes, and increased cholesterol levels.

Patients on steroid medicines, but especially women, should consult with their doctor about safety concerns with the use of steroids.  Patients should use the lowest possible dose as recommended by their doctor.  Cholesterol levels and liver enzymes should be followed regularly and patients should get an ultrasound of the liver regularly to check for adenomas. 

With the advent of newer HAE therapies to prevent or treat acute attacks, some patients may be able to decrease their steroid dose and use newer therapies to prevent or treat HAE attacks. Patients should speak with their doctors about the range of available therapies to decide what is right for them.

I have Hereditary Angioedema Type III and am still trying to figure out what constitutes an attack and what doesn't.  I have noticed that an increase in size in my upper abdomen, diarrhea and terrible pressure seemed to be hallmarks of any swelling anywhere else...  Is this "normal"?  Also, it looks like stress and/or physical therapy from an injury is bringing on these attacks.  I am still trying to learn this disease so any insight would be appreciated.

It is certainly possible that these episodes are HAE abdominal attacks.  During abdominal attacks, the walls of the intestines swell and bloating, pain, vomiting and diarrhea are all common symptoms.  And yes, both stress and minor physical trauma, which you could experience during physical therapy, can be triggers for attacks. .

I have HAE type II. Can I live a normal life?

Patients with HAE can lead normal lives, including going to school, pursuing their chosen career and having a family. This has become much easier recently with approval of medicines for both prevention and treatment of HAE attacks. You should discuss with you doctor what your options are and which therapy or therapies are most appropriate for you.

I have Hereditary Angioedema (HAE). Am I able to donate plasma and blood even though I have this condition?

Having Hereditary Angioedema is not a contraindication for blood or plasma donation, but make sure to note your diagnosis when you donate.

In August 2002, I had my first life threatening attack. It was treated as an anaphylactic shock. I was taken to the Emergency Room as a level 4 emergency. I was not breathing well and my joints, hands, feet were swollen. I had, for years prior, had little attacks that caused rashes in different areas, they were hot, like sunburns, uncomfortable, itchy, painful, but I always had sharp abdominal pains as my alarm to an attack beginning. It was diagnosed as Idiopathic Anaphylaxis, but as I read the site HAEHope.com, I see so many of my symptoms, including Rheumatism. I am afraid to take this finding to my doctor, I am already treated as a hypochondriac! Is there a way for them to see all of the testing and different doctors that I have been through for an answer to what is going on? Is it possible just to ask for the test for this?

While some patients with HAE have a rash that precedes attacks, rash alone is not a typical sign of HAE.  However, given your history I’d strongly encourage you to see your doctor and discuss possible testing for HAE.  You should be able to request results of all doctors’ visits and all testing that has been done before your visit. You can read more about the types of tests that you can request to determine if you have HAE at www.haehope.com/about-hae/diagnosing-hae.html. 

What blood pressure medicine can I take with HAE?

Patients with HAE should not use medications from the class of drugs called ACE-inhibitors, where ACE stands for 'Angiotensin Converting Enzyme'. This is because ACE breaks down bradykinin, which is a chemical produced during HAE attacks and thought to cause the swelling and pain associated with HAE.   Because ACE-inhibitor drugs block the activity of ACE in the body, higher levels of bradykinin might build up in the body. As a result, use of an ACE-inhibitor medication might lead to more frequent or severe HAE attacks. However, there are other types of blood pressure medications that do not have this effect. Talk with your doctor about what medications should be avoided and what medications could be used to treat high blood pressure as alternatives to ACE-inhibitors.

I would like to be provided with a list of Blood pressure medications that can bring on an attack of HAE. I have had several attacks in 2011 brought on by BP medication. Where could I find such a list.

ACE (Angiotensin Converting Enzyme) inhibitors are a type of blood pressure lowering medicines that may trigger HAE attacks.  It is conventional for ACE inhibitors to have generic names ending in “-pril”.  Examples include lisinopril, captopril, enalapril, quinapril, perindopril, ramipril, benazepril, trandolapril, and moexipril.  However, this is not a comprehensive list of ACE inhibitor drugs, and moreover, it should be noted that the brand names for these medications do not end in “-pril”. In any case, please  be sure to talk with your doctor regarding your HAE and what medications you should avoid. 

My 13 year old son just got diagnosed with Hereditary Angioedema. He had a major abdominal pain. CT scan indicated fluid in the cavity and spleen inflammation at 14.5 cm. My question is: Is having an inflamed spleen part of the Angioedema or are these two separate problems? [The spleen] has been inflamed for 4 weeks now. Also, Berinert was given to my son at the Hospital through infusion. It took the pain away in less than 2 hours, which was incredible. My son had been on Morphine for 2 days. So does this medicine only help with the pain, but does not reduce swelling?

The spleen is not typically a site of swelling in Hereditary Angioedema (HAE).  Acute HAE attacks typically affect the face, genitals, hands, feet, abdomen, and throat.  Additionally, treatment of an acute attack with BERINERT® or other medicines approved for treatment of acute HAE attacks may result in improvement of both swelling and pain (please see BERINERT full prescribing information for approved indication).  Certainly by 4 weeks any swelling should have resolved.  I'd also suggest seeing your son's doctor to discuss if more should be done to evaluate the swelling of the spleen.

I follow a 6 year old little girl with HAE. We are finding it very hard to get answers and would like names of specialists in this condition. Are there any doctors we can contact for advice/ assistance?  Her quality of life is not good at this time.  Can you help?

I agree that it can be hard to get answers about HAE as it is a rare condition and rapid progress is being made in the treatment of the illness. US Hereditary Angioedema Association (www.HAEA.org) can be helpful in directing you to an expert in your area.  Please visit Patient Services Team page (http://www.haea.org/contact/patient-services-representatives/) to find your local representative.  

My family has HAE and my mother is 85 years old, she has been on Danocrine for many years very successfully. But now with low estrogen due to ageing she is developing male signs physically. Is there something else she can take? 

Yes.  There are a number of new therapies which can be used to prevent or treat acute attacks of HAE.  It is important that she meets with her doctor, who is managing her HAE to discuss all available treatment options and have a plan in place before making any changes in therapy.