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    Angioedema, Hereditary

    Important
    It is possible that the main title of the report Angioedema, Hereditary is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

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

    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.

    Resources

    Immune Deficiency Foundation
    40 W. Chesapeake Avenue
    Suite 308
    Towson, MD 21204
    Tel: (410)321-6647
    Fax: (410)321-9165
    Tel: (800)296-4433
    Email: idf@primaryimmune.org
    Internet: http://www.primaryimmune.org

    NIH/National Institute of Allergy and Infectious Diseases
    Office of Communications and Government Relations
    6610 Rockledge Drive, MSC 6612
    Bethesda, MD 20892-6612
    Tel: (301)496-5717
    Fax: (301)402-3573
    Tel: (866)284-4107
    TDD: (800)877-8339
    Email: ocpostoffice@niaid.nih.gov
    Internet: http://www.niaid.nih.gov/

    American Academy of Allergy, Asthma and Immunology
    611 East Wells Street
    Milwaukee, WI 53202
    Tel: (414)272-6071
    Fax: (414)276-3349
    Tel: (800)822-2762
    Email: info@aaaai.org
    Internet: http://www.aaaai.org

    US Hereditary Angioedema Association, Inc.
    Seven Waterfront Plaza
    500 Ala Moana Blvd., Suite 400
    Honolulu, HI 96813
    Fax: (508)437-0303
    Tel: (866)798-5598
    Email: info@haea.org
    Internet: http://www.haea.org

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    European Society for Immunodeficiencies
    1-3 rue de Chantepoulet
    Geneva, CH 1211
    Switzerland
    Tel: 410229080484
    Fax: 41229069140
    Email: esid@kenes.com
    Internet: http://www.esid.org

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 12/3/2009
    Copyright 1986, 1987, 1989, 1991, 1992, 1993, 1996, 1997, 1999, 2002, 2005, 2007, 2008 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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