Tue 13 Oct 2009
Tue 13 Oct 2009
Tue 13 Oct 2009
Tue 13 Oct 2009
Hereditary angioedema (HAE) is a potentially fatal genetic disorder caused by a deficient or abnormal blood protein called C1 inhibitor. It causes swelling of the extremities, face, trunk, abdomen or airways. Abdominal attacks can result in severe pain, nausea, vomiting, cramps and diarrhea. The attacks can be spontaneous but may also be triggered by stress, surgery or infection. Death may result when the airways close because of the swelling. Only 1 in 50,00 to 150,000 people worldwide/ 1 in 10,000 to 50,000 in the US is affected by this rare dominant mutation, but the mortality is quite high (30%) so it’s really good that the U.S. Food and Drug Administration has approved a treatment Hereditary angioedema.
The FDA announced that Berinert has been approved for adults and adolescents with HAE. Berinert is effective at treating the symptoms of abdominal attacks and facial swelling in patients with HAE. Berinert is a protein product derived from human plasma that regulates clotting and inflammatory reactions.
The support group US Hereditary Angioedema Association has excellent information for patients and families, and this page at About.com has a great overview of symptoms.
Post from: Genetics & Health
Tue 13 Oct 2009