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Angioedema, Hereditary

Important
It is possible that the main title of the report Angioedema, Hereditaryis not the name you expected.

Synonyms

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.

Resources

Immune Deficiency Foundation
40 West Chesapeake Avenue
Suite 308
Towson
MD
21230
Tel: (410)321-6647
Fax: (410)321-9165
800: (800)296-4433
idf@primaryimmune.org
http://www.primaryimmune.org

NIH/National Institute of Allergy and Infectious Diseases
6610 Rockledge Drive
MSC 6612
Bethesda
MD
20892-6612
Tel: (301)496-5717
Fax: (301)402-3573
TDD: (800)877-8339
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
800: (800)822-2762
info@aaaai.org
http://www.aaaai.org

Hereditary Angioedema Association, Inc.
575-A Cooke Street, Suite 2219
Honolulu
HI
96813
Tel: (774)206-5555
Fax: (774)206-5609
generalinfo@hereditaryangioedema.com
http://www.haea.org

European Society for Immunodeficiencies (ESID)
c/o Dr. Esther de Vries
Jeroen Bosch Hospital
Dept. Paediatrics
P.O. Box 90153
Hertogenbosch
5200 ME's
Netherlands
Tel: +31 73-6992965
Fax: +31 73-6992948
info@esid.org
http://www.esid.org

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

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: 10/13/2008
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 of Rare Disorders

Last Updated: October 13, 2008

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.