Hereditary angioedema with normal c1 inhibition.
Until recently, it was assumed that hereditary angioedema was a disease resulting 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 this 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 in the affected persons.
Bork
Konrad
K
Department of Dermatology, Johannes Gutenberg University, Mainz, Germany. bork@hautklinik.klinik.uni-mainz.de
D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D054179:Angioedemas, Hereditary / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D000806:Angiotensin-Converting Enzyme Inhibitors / Q000276:immunology / Q000378:metabolism; D050718:Complement C1 Inhibitor Protein / Q000235:genetics*; D003613:Danazol / Q000627:therapeutic use; D004965:Estrogen Antagonists / Q000627:therapeutic use; D004967:Estrogens / Q000276:immunology; D005174:Factor XII / Q000235:genetics*; D005260:Female; D006633:Histamine Antagonists / Q000627:therapeutic use; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D012737:Sex Factors
D000305:Adrenal Cortex Hormones; D000806:Angiotensin-Converting Enzyme Inhibitors; D050718:Complement C1 Inhibitor Protein; D004965:Estrogen Antagonists; D004967:Estrogens; D006633:Histamine Antagonists; D005174:Factor XII; D003613:Danazol