title: Hereditary angioedema with normal C1 inhibitor.
abstract: Until recently it was assumed that hereditary angioedema was 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 were women. In many of the affected women, oral contraceptives, hormone replacement therapy containing estrogens, and pregnancies triggered the clinical symptoms. In some families mutations in the coagulation factor XII (Hageman factor) gene were detected.
authors.affiliation: Department of Dermatology, Johannes Gutenberg University, Langenbeckstr. 1, 55131 Mainz, Germany. Electronic address: bork@hautklinik.klinik.uni-mainz.de.
authors.forename: Konrad
authors.initials: K
authors.lastname: Bork
mesh_terms: D000799:Angioedema / Q000175:diagnosis / Q000209:etiology; D054179:Angioedemas, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control / Q000628:therapy*; D050718:Complement C1 Inhibitor Protein; D003937:Diagnosis, Differential; D005174:Factor XII / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D011247:Pregnancy; D012307:Risk Factors
chemical_list: D050718:Complement C1 Inhibitor Protein; D005174:Factor XII
keywords: Coagulation factor XII; Hereditary angioedema type III; Hereditary angioedema with normal C1 inhibitor; Kallikrein-kinin pathway; Mutations in the F12 gene