Getting an accurate
HAE diagnosis
Dariela, 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.
before receiving an
accurate diagnosis.*
*Average delay according to a survey of 445 people 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.
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
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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SIGN UP HEREExpand 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.
The part of the body between the chest and the pelvis that surrounds the stomach, intestines, liver, spleen and pancreas. This is a common location affected during an HAE attack.
Acute treatment is taken at the start of an HAE attack to treat the symptoms. It's also referred to as on-demand treatment/therapy.
Antihistamines are medications used to relieve allergy symptoms, like sneezing and itching. Antihistamines do not help reduce the swelling in a HAE attack.
Bradykinin is a protein found in the blood. When there is too much bradykinin in the blood, it can result in the swelling experienced during an HAE attack.
C1 esterase is a protein inhibitor found in the blood. When it's at normal levels and working properly, it helps to regulate swelling in the body. If there's not enough working C1 esterase inhibitor (C1-INH), your body isn't able to perform this function—and that can put you at risk of an HAE attack.
A protein found in blood. Measuring C4 levels can help your doctor diagnose and monitor treatment of certain diseases, such as HAE.
Epinephrine is a hormone used to treat severe allergic reactions. It is available as a drug to treat many conditions but does not help reduce the swelling in an HAE attack.
Estrogens are female sex hormones. They're important for sexual and reproductive development. Estrogens can also be included in oral contraceptives, hormone replacement therapy and other medications. Studies have shown that fluctuations in estrogen may influence HAE attacks in some people.
Glucocorticoids are steroid hormones that regulate many functions of the body, including inhibiting inflammatory, allergic and immune responses. Glucocorticoids are available as drugs, but do not help reduce the swelling of an HAE attack.
Hereditary angioedema (HAE) is a rare genetic disorder. Most cases of HAE are caused by a deficiency in a protein called C1 esterase inhibitor, or the C1 esterase inhibitor they have doesn't work the way it should.
Kallikrein is a chemical found in the body that breaks apart certain proteins in order to form others, such as bradykinin, the protein that causes swelling during an HAE attack.
Relating to the larynx; commonly associated with the term "attack" in the context of HAE. The larynx is part of the throat. A laryngeal HAE attack happens when the larynx swells, carrying the potential risk of suffocation.
Preventive, or prophylactic, HAE treatment involves taking medicine routinely to help prevent HAE attacks or reduce the frequency and severity of HAE attacks.
Beneath the skin. This is one of the primary locations for HAE attacks.
