Contact system activation in patients with HAE and normal C1 inhibitor function

Immunol Allergy Clin North Am. 2013 Nov;33(4):513-33. doi: 10.1016/j.iac.2013.07.007. Epub 2013 Sep 14.


In addition to hereditary angioedema (HAE) with C1 inhibitor (C1INH) deficiency, a type of HAE with dominant inheritance and normal C1INH function (HAE with normal C1INH) has been described. This relates to contact phase activation with exaggerated kinin formation, and mutations in the coagulation factor XII gene have been identified in some affected families, but the cause of the disease has remained elusive in a majority of families. Several triggering factors are responsible for developing kinin forming system, with participation of endothelium and mast cell component. Angioedema conditions meet the accumulation of kinins with failed kinin catabolism.

Keywords: Contact phase; Factor XII; Kallikrein; Kinin forming enzymes; Kininogen.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Angioedemas, Hereditary / diagnosis
  • Angioedemas, Hereditary / etiology*
  • Complement C1 Inhibitor Protein / metabolism*
  • Enzyme Activation
  • Humans
  • Kallikreins / metabolism*
  • Kinins / metabolism*
  • Patient Outcome Assessment
  • Proteolysis


  • Complement C1 Inhibitor Protein
  • Kinins
  • Kallikreins