Angioedema, Hereditary / Disease

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Angioedema, Hereditary

Synonyms of Angioedema, Hereditary

Angioneurotic Edema, Hereditary
C1-INH
C1NH
Complement Component 1 Inhibitor Deficiciency
Complement Component C1, Regulatory Component Deficiency
Esterase Inhibitor Deficiency
HAE
HANE

Disorder Subdivisions

C1 Esterase Inhibitor Deficiency, Type I, Angioedema
C1 Esterase Inhibitor Dysfunction, Type II, Angioedema

General Discussion
Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of the accumulation of fluids outside of the blood vessels, blocking the normal flow of blood or lymphatic fluid and causing rapid swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway. Usually, this swelling is not accompanied by itching, as it might be with an allergic reaction. Swelling of the gastrointestinal tract leads to cramping. Swelling of the airway may lead to obstruction, a potentially very serious complication. These symptoms develop as the result of deficiency or improper functioning of certain proteins that help to maintain the normal flow of fluids through very small blood vessels (capillaries). In some cases, fluid may accumulate in other internal organs. The severity of the disease varies greatly among affected individuals.

The most common form of the disorder is hereditary angioedema type I, which is the result of abnormally low levels of certain complex proteins in the blood (C1 esterase inhibitors), known as complements. They help to regulate various body functions (e.g., flow of body fluids in and out of cells). Hereditary angioedema type II, a more uncommon form of the disorder, occurs as the result of the production of abnormal complement proteins.

Organizations related to Angioedema, Hereditary

American Academy of Allergy, Asthma and Immunology
611 East Wells Street
Milwaukee WI 53202
Phone #: 414-272-6071
800 #: 800-822-2762
e-mail: info@aaaai.org
Home page: http://www.aaaai.org
European Society for Immunodeficiencies (ESID)
c/o Dr. Esther de Vries
Hertogenbosch None 5200 ME's
Phone #: +31- 73--6992965
800 #: N/A
e-mail: info@esid.org
Home page: http://www.esid.org
Hereditary Angioedema Association, Inc.
575-A Cooke Street, Suite 2219
Honolulu HI 96813
Phone #: 774-206-5555
800 #: --
e-mail: generalinfo@hereditaryangioedema.com
Home page: http://www.haea.org
Immune Deficiency Foundation
40 West Chesapeake Avenue
Towson MD 21204
Phone #: 410-321-6647
800 #: 800-296-4433
e-mail: idf@primaryimmune.org
Home page: http://www.primaryimmune.org
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
NIH/National Institute of Allergy and Infectious Diseases
6610 Rockledge Drive
Bethesda MD 20892-6612
Phone #: 301-496-5717
800 #: --
e-mail: N/A
Home page: http://www.niaid.nih.gov/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html