Hereditary Angioedema

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Hereditary Angioedema

Hereditary Angioedema (HAE) is an uncommon genetic disorder caused by an insufficient amount or lack of C1 inhibitor, a protein found in the blood. C1 inhibitor is one of nine complement proteins found in the blood that works with your immune system that helpsHereditary Angioedema control inflammation.  Hereditary Angioedema’s name indicates that the disease is passed on from family members, however about 20% of cases do not have a family history of HAE. The most prominent sign of HAE are episodes of severe swelling which often occurs on the face, hands, feet, intestines, and airways.

Due to the swelling of the intestines a common symptom of HAE is extreme abdominal pain and cramping. HAE can also be life threatening due to the laryngeal or esophageal swelling that can occur. Individuals who suffer from HAE also complain of nausea and a tingling sensation throughout their body often in areas that will develop swelling. They also note a rash that occurs after the swelling resolves.

If you have these symptoms seek out and consult with your local immunologist. After providing your immunologist with your detailed medical history the immunologist may find it appropriate to have lab testing performed which may include C1-inhibitor functional and C1-inhibitor quantitative which may need to be repeated during episodic swelling. Subsequent diagnosis and treatment will be decided after careful review by your immunologist.

Next week’s article will contain information about the treatment of Hereditary Angioedema.

If you have any questions about Hereditary Angioedema please contact Rocky Mountain Allergy at 801-775-9800 or visit our website


By | 2017-05-31T15:14:07+00:00 October 18th, 2013|Immunodeficiency, Swelling|Comments Off on Hereditary Angioedema

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