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/. 

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.

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.

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 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.