Hereditary angioedema with normal C1 inhibitor activity including hereditary angioedema with coagulation factor XII gene mutations

Immunol Allergy Clin North Am. 2006 Nov;26(4):709-24. doi: 10.1016/j.iac.2006.09.003.

Abstract

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.

Publication types

  • Review

MeSH terms

  • Angioedema / drug therapy
  • Angioedema / genetics*
  • Angioedema / physiopathology*
  • Complement C1 Inhibitor Protein / metabolism*
  • Factor XII / genetics*
  • Female
  • Humans
  • Male
  • Mutation
  • Pedigree

Substances

  • Complement C1 Inhibitor Protein
  • Factor XII