Hereditary angioedema with normal C1 inhibitor activity including hereditary angioedema with coagulation factor XII gene mutations.
Until recently it was assumed that hereditary angioedema is a disease that results exclusively from a deficiency of the C1 inhibitor. In 2000, families with hereditary angioedema, normal C1 inhibitor activity, and protein in plasma were described; all patients 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 women.
Bork
Konrad
K
Department of Dermatology, Johannes Gutenberg University, Langenbeckstr 1, 55131 Mainz, Germany. bork@hautklinik.klinik.uni-mainz.de
D000799:Angioedema / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology*; D050718:Complement C1 Inhibitor Protein / Q000378:metabolism*; D005174:Factor XII / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
D050718:Complement C1 Inhibitor Protein; D005174:Factor XII