Hereditary Angioedema

Hereditary Angioedema

Hereditary angioedema (types I and II) (also known as "HAE" or "Quincke edema" after discoverer Heinrich Quincke) is a rare, inherited blood disorder that causes episodic attacks of swelling that may affect the face, extremities, genitals, gastrointestinal tract and upper airways.

Swellings of the intestinal mucosa may lead to vomiting and painful, colic-like intestinal spasms that may mimic intestinal obstruction. Airway edema may be life-threatening. Episodes may be triggered by trauma, surgery, dental work, menstruation, some medications, viral illness and stress; however, this is not always readily determined. This disorder affects approximately one in 10,000-50,000 people.

Hereditary angioedema (HAE) is caused by a deficiency of the C1 esterase inhibitor, a protein of the complement system, a part of the immune system. Some mutations produce low levels of C1-inhibitor (type I); others produce normal levels of ineffective C1 protein (type II).