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Hereditary angioedema

Other Names for this Disease
  • Angioedema, hereditary
  • Deficiency of C1 esterase inhibitor
  • HAE
  • HANE
  • Hereditary angioedema type 1
More Names
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Overview


Hereditary angioedema (HAE) is an immune disorder characterized by recurrent episodes of severe swelling. The most commonly affected areas of the body are the limbs, face, intestinal tract, and airway.[1] HAE is caused by low levels or improper function of a protein called C1 inhibitor which affects the blood vessels.[2] This condition is inherited in an autosomal dominant pattern.[1]

There are three types of HAE, types I, II, and III. The types can be distinguished by their underlying causes and levels of C1 inhibitor in the blood. Type I and II are caused by mutations in the SERPING1 gene. Some cases of type III are associated with mutations in the F12 gene. Other genes are likely to be identified as the cause of other cases of HAE type III.[1]


References

  1. Hereditary angioedema. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition/hereditary-angioedema. Accessed January 24, 2011.
  2. Dugdale DC, Henochowicz SI. Hereditary angioedema. MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/001456.htm. Accessed January 24, 2011.
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General Information

  • Genetics Home Reference (GHR) contains information on Hereditary angioedema. Click on the link to go to GHR and review the information.
  • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hereditary angioedema. Click on the link to view a sample search on this topic.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Hereditary angioedema. Click on the link to go to OMIM and review these resources.

Press Releases

  • The U.S. Food and Drug Administration (FDA) has recently approved Cinryze, Berinert and Kalbitor in the United States to protect people with hereditary angioedema (HAE). Click on the links above to read the FDA press releases related to these medications.