Discover the challenges in diagnosis
Because hereditary angioedema (HAE) is rare, few people have heard of it, including doctors. That's why getting an accurate diagnosis can be challenging. In fact, the average person with HAE searches for approximately 10 years before receiving a diagnosis.
Misdiagnosis is common
HAE symptoms can look very similar to the symptoms of other, more common conditions. As a result, one survey showed up to 65% of people with HAE have been misdiagnosed. Most commonly, skin HAE attacks are mistaken for allergic reactions. Abdominal attacks are also confused with appendicitis or irritable bowel syndrome.
If you suffer from symptoms like unexplained swelling or attacks of abdominal pain that last for days, fill out this Symptom Profiler for help talking with your doctor about HAE.
Consequences of misdiagnosis
Misdiagnosis can cause significant consequences. In fact, up to one-third of undiagnosed people with HAE have had unnecessary surgery. It can also mean years of frustration with treatments that don't work because they don't treat HAE.
Discover the path to diagnosis
Of course, getting a diagnosis starts by talking with your doctor. But because most doctors will never see a patient with HAE, they may not be familiar with the condition. So, it's a good idea for you to be as prepared as possible. Prior to your doctor’s appointment, you can start keeping a journal to record important information, like the location and severity of your attack(s). A journal can also help you keep track of details, like what you were doing and how you were feeling before your attack. Sharing these facts with your doctor can help him or her get a better understanding of your symptoms.
Want help finding a doctor who knows about HAE? The US Hereditary Angioedema Association (HAEA) can help.
What to expect at your doctor's appointment
If your doctor thinks there's a chance you could have HAE, he or she will likely ask about your symptoms and when you first noticed them. Because HAE is usually passed down through relatives, your doctor will probably ask if anyone in your family has been diagnosed with HAE or experienced swelling episodes.
Remember that you could still have HAE even if no one else in your family has it. One in four HAE cases results from a spontaneous change in the genes, so there may be no family history to help with your diagnosis. Knowing your symptoms can help your doctor decide whether you should be tested for HAE. Filling in your Symptom Profile can help get your conversation started.
Confirming the diagnosis
The only way to know for certain that you have HAE is with a blood test. Your doctor will measure your levels of the proteins C4 and C1-esterase inhibitor. If you have HAE, this test can also help determine whether you have Type I HAE or Type II HAE.