By Peter Ciszewski; September 30, 2019
Hereditary angioedema (HAE) is a rare genetic disease characterized by repeated edema attacks that can affect any cutaneous or mucosal surface. The most common areas of swelling are the face, larynx, tongue, extremities, stomach, bowels, and genitals. The attacks can last several days but because it is a very rare condition and the symptoms tend to mimic more common allergic reactions, testing for HAE may not occur to some clinicians.
In this video clip, Timothy Craig, DO of the Penn State Milton S. Hershey Medical Center describes some of the symptoms that may warrant testing for HAE.
The test for HAE can include a simple and cost-effective serum C4 level test. The C4 concentration is almost always decreased during attacks and is usually low between attacks. A C1-inhibitor functional test may also help in the diagnosis.
Testing is important for HAE since traditional treatments for allergic reactions (e.g., antihistamines, corticosteroids) are ineffective. Currently there are seven FDA approved treatments for HAE. Four are focused on the C1 inhibitor (Bertinert, Cinryze, Heagarda, Ruconest) and three alter the bradykinin/kallikrein system (Firazyr, Kalbitor, Takhzyro).