Hereditary Angioedema FAQ
In Dance Spirit’s September issue, 15-year-old dancer Kelsie Neahring shares her struggle with hereditary angioedema (HAE), a rare disorder that causes her body to unexpectedly swell up. We talked to G. Wendell Richmond M.D., clinical assistant professor at University of Illinois College of Medicine at Rockford and one of Kelsie’s doctors, to learn more about HAE.
What is HAE?
HAE is an extremely uncommon disease caused by a deficiency of C1 inhibitor, a protein that controls a compound called bradykinin that helps maintain fluid balance within tissues. This causes angioedema, which is simply the swelling of the face, hands, abdomen, etc. The frequency of attacks varies. Some patients will have one or two attacks per year, while someone like Kelsie can have 3 or 4 attacks in a week. When the swelling involves the larynx and throat, HAE is potentially life threatening.
What are the types of HAE?
There are three forms of HAE: type 1, type 2 and HAE with normal C1 inhibitor, which was referred to as type 3 until recently. Type 1 is when the body doesn’t make any C1 inhibitor at all. Type 2 is when the body makes C1 inhibitor, but it doesn’t work in the way it should. And HAE with normal C1 inhibitor, the type that Kelsie has, is when the body makes working C1 inhibitor, but patients still experience angioedema.
How do I know if I’m at risk for hereditary angioedema?
Individuals with Types 1 and 2 HAE usually have a family member with the disease. There are also some clues to look out for. Maybe you’ll go to the dentist for a procedure and come out of it with a lot of facial swelling or you’ll grab a tool tightly and have swelling of the hands. Frequently, symptoms are relatively subtle, so it often goes undiagnosed or is mistaken for something else like an allergy. In females, angioedema symptoms often begin in relation to an increase in estrogen, whether it’s starting your period, taking birth control pills or getting pregnant.
What can HAE patients do to treat their symptoms?
Patients with HAE type 1 and 2 can keep things relatively in control by taking attenuated antigens, a variation on testosterone that increases the production of C1 inhibitor. Unfortunately, for patients with HAE with normal C1 inhibitor like Kelsie, there is no way to prevent attacks. Instead, they can take an inhibitor of bradykinin at the start of an attack. Though these medications are effective, they only last for about an hour to an hour and a half.
It's time to get your pirouette on! From September 5th to September 30th, we're hosting a contest to find out who's the best turner of them all.
Put together your most impressive turning combo. Post a video online. Share your turns with us and thousands of other dancers around the world. And if our editors think you're the top turner, you'll win a fabulous prize.
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