Hereditary Angioedema

Hereditary Angioedema

Hereditary angioedema (HAE) is a rare disorder that causes episodes of pain, swelling and inflammation in the body. It is an inherited disorder that affects about 1 in 10,000 people.

HAE is a genetic disorder caused by an abnormally low level of an enzyme called C1 inhibitor, which is responsible for controlling inflammation in the body. When the level of this enzyme is low, the body's immune system responds by releasing histamine, a protein that causes swelling and other symptoms. People with HAE experience episodes of swelling in different areas of the body, such as the face, lips, hands, feet, and abdominal wall. In the most severe cases, swelling in the throat and airway can lead to difficulty breathing, requiring immediate medical attention.

The cause of HAE is unknown, but it appears to be inherited in an autosomal dominant manner. It is estimated that up to one-third of cases are due to new mutations. It is most common in Caucasians and is seen more in females than males.

During an attack of HAE, swelling can occur in any area of the body and can last from a few hours to several days. The main symptoms of HAE are swelling and inflammation, which can cause pain and discomfort. Additional symptoms can include nausea, vomiting, diarrhea, fatigue and fever.

There is no cure for HAE, but there are treatments available to help manage symptoms. Treatment options include medications such as androgens, anti-inflammatory drugs or antifibrinolytic agents, immune system suppressors, and supportive therapies such as cold compresses and elevating affected body parts.

People affected by HAE can also benefit from lifestyle changes such as a healthy diet, stress reduction and regular exercise. They should also avoid triggers such as certain medications and activities that may provoke an attack.

Living with HAE can be difficult, but with proper management, people affected by this condition can live a normal life. It is important to seek out medical advice to ensure you are receiving the right treatment.

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