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What Is Hereditary Angioedema?

Hereditary angioedema (HAE) is a rare genetic disorder. It is a condition you are born with that causes episodes of severe swelling. This swelling, called angioedema, can happen in different parts of the body, such as the face, hands, feet, and airway (throat).

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What Is Hereditary Angioedema?

Hereditary angioedema (HAE) is a rare genetic disorder. It is a condition you are born with that causes episodes of severe swelling. This swelling, called angioedema, can happen in different parts of the body, such as the face, hands, feet, and airway (throat).

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What Causes Hereditary Angioedema?

HAE is caused by a faulty gene. It is an inherited disease, which means it is passed down in a family. The faulty gene causes a problem with a protein in your blood. This leads to the body producing too much of a substance that makes your blood vessels leak fluid into your tissues, which is what causes the swelling.

What Are the Symptoms?

The main symptom is an "attack," which is a sudden episode of swelling. This swelling is not itchy and does not cause a rash. It can affect the hands, feet, face, or genitals. Swelling in the stomach can cause severe belly pain, nausea, and vomiting. The most dangerous symptom is swelling in the throat or airway, which can block your breathing.

How Is It Diagnosed?

A doctor will suspect HAE if you have these swelling attacks but do not get itchy hives, which are common in allergic reactions. The diagnosis is confirmed with a blood test. This test will check the levels of certain proteins in your blood to see if they are low or are not working correctly. Genetic testing can also be used.

How Is Hereditary Angioedema Treated?

Treatment is very specific. HAE attacks do not get better with common allergy medicines like antihistamines or steroids. Treatment is in two parts. The first is "on-demand" medicine that you take as soon as an attack starts to stop it. The second is "prophylactic" medicine, which is a medicine you take regularly to prevent the attacks from happening.

Warning Signs Before an Attack

Many people with HAE experience warning signs, known as prodromal symptoms, before the actual swelling begins. These can occur hours or even a day in advance. Common early signs include extreme fatigue, muscle aches, or a tingling sensation in the skin. A specific non-itchy, red rash called erythema marginatum may also appear on the skin. Recognizing these early signals can help patients take their medication early to reduce the severity of the attack.

FAQs on Hereditary Angioedema

Is HAE the same as an allergic reaction?

No. While both cause swelling, they are very different. Allergic swelling is caused by histamine and is treated with antihistamines. HAE is caused by a different protein and must be treated with special HAE medicines.

What can trigger an HAE attack?

Triggers can be different for everyone. Common triggers include stress, a minor injury, infection, or a dental procedure. Sometimes, attacks can happen for no clear reason.

Is HAE dangerous?

Yes. A swelling attack in the throat is a medical emergency and can be life-threatening because it can stop you from breathing. People with HAE must have a plan and their "on-demand" medicine with them.

When to See Your Doctor

You should see a doctor if you have episodes of swelling, especially on your face or hands, that are not itchy and do not get better with allergy medicine. If you ever have swelling in your throat or have trouble breathing, you must go to the emergency room right away.