National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Hereditary Angioedema 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.
- Angioneurotic Edema, Hereditary
- Complement Component 1 Inhibitor Deficiency
- Complement Component C1, Regulatory Component Deficiency
- Esterase Inhibitor Deficiency
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.
American Academy of Allergy, Asthma and Immunology
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European Society for Immunodeficiencies
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Genetic and Rare Diseases (GARD) Information Center
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- Gaithersburg, MD 20898-8126
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Immune Deficiency Foundation
- 110 West Road
- Suite 300
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NIH/National Institute of Allergy and Infectious Diseases
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US Hereditary Angioedema Association, Inc.
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- 500 Ala Moana Blvd., Suite 400
- Honolulu, HI 96813
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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
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Last Updated: 1/6/1970
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