Diagnosis and treatment of hereditary angioedema with normal C1 inhibitor
Open Access
- 28 July 2010
- journal article
- Published by Springer Science and Business Media LLC in Allergy, Asthma & Clinical Immunology
- Vol. 6 (1), 15
- https://doi.org/10.1186/1710-1492-6-15
Abstract
Until recently it was assumed that hereditary angioedema is a disease that results exclusively from a genetic deficiency of the C1 inhibitor. In 2000, families with hereditary angioedema, normal C1 inhibitor activity and protein in plasma were described. Since then numerous patients and families with that condition have been reported. Most of the patients by far were women. In many of the affected women, oral contraceptives, hormone replacement therapy containing estrogens, and pregnancies triggered the clinical symptoms. Recently, in some families mutations in the coagulation factor XII (Hageman factor) gene were detected in the affected persons.Keywords
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