Getting an accurate
HAE diagnosis

Living with HAE

Understand the challenges of hereditary angioedema (HAE) diagnosis

Because HAE is so rare, many doctors may not be familiar with it. In addition, the location, frequency, and severity of attacks can change over time. This may make it hard to keep track of your condition and discuss it with your doctor.

8.4 years

before receiving an
accurate diagnosis.*

*Average delay according to a survey of 445 people with HAE

Kevin, patient living with HAE. Kevin, Living with HAE

Help your doctor by being prepared

Here are some things you can do before you next conversation:

  • Start keeping a journal of the location, severity, and frequency of your attacks.
  • Keep note of any changes that occur in your HAE attacks over time.
  • Keep note of how HAE impacts your life, emotional well-being, and daily activities.
  • Include what you were doing and how you were feeling before each attack. The more detail you provide, the more it helps your doctor understand your symptoms.

Confirming the diagnosis

To be certain you have HAE, your doctor will evaluate you and ask for a detailed history of your symptoms. They will also perform a C1 blood test. This test measures the levels of the proteins C4 and C1 esterase inhibitors. It can also help determine whether you have Type I or Type II HAE. In some instances, you may need to take a genetic test to get a diagnosis.

Once you've been diagnosed, it's important to work with your doctor on your HAE management plan. If your doctor is not that familiar with treating HAE, you may want to find an HAE specialist who can help you put together the right plan for your needs.

My husband and I decided early, when our son Andrew was diagnosed at 6 years old, that we wanted to start him on treatment as soon as possible.

Beth, Living with HAE and caring for her son who has HAE

Beth, patient living with HAE.

When HAE isn't genetic

Remember, you could still have HAE even if no one else in your family has it. One in 4 HAE cases results from a spontaneous change in genetic code, so there may be no family history to support your diagnosis.

Knowing your symptoms can help your doctor decide whether you should be tested for HAE. It can help even more if he or she is able to understand the impact of those symptoms on your life.

65% of patients misdiagnosed

Misdiagnosis is common

In a 2010 online survey of 313 patients, up to 65% of the participants had been misdiagnosed with another condition prior to receiving their HAE diagnosis. Most commonly, skin attacks were mistaken for allergic reactions. Abdominal attacks were also confused with appendicitis or irritable bowel syndrome.

Diagnosing HAE with normal C1-INH

It can be more complicated diagnosing HAE with normal C1-INH (Type III HAE), because C4 and C1 esterase inhibitor are at normal levels and work the way they should. So, the blood test used to confirm Types I and II can't be used. Instead, a diagnosis is based on other findings, like symptoms, family history, how you respond to certain medications and genetic testing.

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Expand your hereditary angioedema (HAE) vocabulary

Learning about a rare disease like HAE can mean reading through a lot of complicated language and medical terminology. Here's help.

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