What is Hereditary Angioedema?
Hereditary Angioedema (HAE) is a rare but serious disease passed down through families. HAE is caused by the lack of or improper function of a natural protein called C1 esterase inhibitor, which helps maintain the normal flow of fluids through small blood vessels known as capillaries. HAE leads to fluid accumulation outside of blood vessels, which can occur anywhere in the body but typically manifests as swelling in the abdomen, hands, feet, face, and/or the airway.
Signs and Symptoms
The nature of HAE varies greatly and changes with age. Untreated attacks can last from 2 to 5 days and occur as frequently as once a week or only a few times per year.
Typical symptoms of HAE are:
- Swelling in the arms, legs, lips, face, tongue, or throat.
- Swelling of the intestines- can be severe and lead to vomiting, dehydration, diarrhea, pain, and occasionally shock.
- Repeat episodes of abdominal cramping without an obvious cause.
- Swelling of the airway- involves throat swelling and sudden hoarseness; swelling may block the airway.
Although many attacks/episodes occur for no apparent reason, triggers such as stress, minor illness (such as the common cold or flu), anxiety, and trauma have been reported. Additionally, many female patients report an increase in the number of attacks during menstrual periods and when taking oral contraceptives or hormone replacement therapy. Some women note an increase in frequency of attacks during pregnancy, whereas others experience a decrease.
A diagnosis can be made by a physician that specializes in the diagnosis and treatment of angioedema such as a board certified allergist. Special blood tests can be ordered for appropriate diagnosis.
Depending on the type of angioedema you have, there is treatment that can specifically help you. There are treatments now available that can replace C1 esterase inhibitor. There are also medications that can inhibit the swelling that occurs. These medications can be used to prevent attacks from occurring or treat an acute onset attack. They are highly effective treatment that make a significant impact in your quality of life and improves your safety.