Diseases & Conditions


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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