Well This Is Just Swell
Additional Information
Hereditary Angioedema, or HAE, is a set of very real illnesses. They are classified as orphan diseases. An orphan disease is a disease that affects only a small percentage of the population.
HAE is the disease described in the story. It is a swelling disorder involving the immune system. There are two parts to the immune system: white blood cells, and the complement system. The disease affects the complement system. C1 Esterase Inhibitor, also known as C1 Inhibitor, is produced by the body to inhibit Kallikrein from transforming into Bradykinin. Bradykinin in turn activates Factor 12 which affects clotting. When F12 is activated, fluid rapidly leaks from blood vessels. This results in swelling, and can lead to dehydration. The swelling from the disease can be extremely painful, and can affect any part of the body. The most dangerous locations tend to be the trachea (throat), back of the mouth, and tongue.
Swelling from HAE does not respond to antihistamines or steroids. Epinephrine may make the swelling worse. High estrogen levels may also make HAE worse in women. Pregnancy may either alleviate symptoms, or exacerbate them. Stress and exercise are common triggers for swelling associated with HAE. Other triggers include food, medications, injuries, and temperatures (hot or cold).
All three types together only affect about 1 in 50,000 people. It can affect men or women. Of those unfortunate people who suffer the disease, 85% have type I, which is a C1 Esterase Inhibitor Deficiency. 15% of sufferers suffer type II, or a malfunctioning C1 Esterase Inhibitor. Of these two, C4 levels are usually low or malfunctioning as well. Type III HAE affects less than 1% of sufferers and is by far the rarest form of the disease. Its cause is as of yet unknown to the medical community, however, many sufferers of Type III have had some success using Androgen therapy, Fresh Frozen Plasma, or C1 Inhibitor concentrate.
During the last few years, several new therapies have been approved by the Food and Drug Administration in the United States. These include acute or emergency treatments (Firazyr, Kalbitor), and prophylactic treatments (Berinert, Cinryze). The new prophylactic treatments are C1 Inhibitor concentrates derived from human blood, and cleaned to virtually eliminate the risk of disease transmission.
May 16, 2012 was the first annual, federally recognized HAE Awareness Day in the United States.
For more information on HAE, please click on one of the links below.
HAE Hope
US Hereditary Angioedema Association
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