Testing for Hereditary Angioedema is Easy and Inexpensive

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).

[MrVVarG]

I have HAE and almost none at the hospitals around me knows anything about it.

[kannyplay]

can this develop in some over 60? I started swelling last year in the night. my tongue, lips and throat. Respiratory wheezing. I have always had an adverse effect to bug bites, but this is different. Scary. I had a ct scan, salivary testing but no blood tests. Is it worth asking?

[juliannahaselberg]

Wow, watching how the swelling diminishes every day until it disappears is definitely appeasing, I went with what I mentioned and after 20 days my angioedema disappeared. I just go'ogled the latest by Shane Zormander and now my skin is as smooth and healthy as it has ever been!