title: [Hereditary angioedema].
abstract: Hereditary angioedema (HAE) is a rare autosomal dominant disease characterized by episodic swelling of the face, extremities, larynx, gastrointestinal tract or genitals. Three different subtypes have been identified so far. Type I and II HAE are caused by mutations in the C1 inhibitor gene leading to decreased or dysfunctional C1 inhibitor, respectively. Type III is caused by a mutation in the coagulation factor XII. In addition, acquired forms or forms with no known etiology exist. Increased bradykinin production leading to increased vessel permeability is common to all HAE types. Treatment of HAE has evolved dramatically during the last years as self-administration of C1 inhibitor concentrate and bradykinin-2 receptor antagonist icatibant have become available.
authors: Helsingin yliopisto, Haartman-instituutti, bakteriologian ja immunologian osasto.
authors: Laura J
authors: LJ
authors: Bouchard
authors: Heli
authors: H
authors: Hyry
authors: Seppo
authors: S
authors: Meri
mesh_terms: D054179:Angioedemas, Hereditary / Q000145:classification / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use; D001920:Bradykinin / Q000031:analogs & derivatives / Q000378:metabolism / Q000627:therapeutic use; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D050718:Complement C1 Inhibitor Protein; D005174:Factor XII / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: D000894:Anti-Inflammatory Agents, Non-Steroidal; D003174:Complement C1 Inactivator Proteins; D050718:Complement C1 Inhibitor Protein; C469952:SERPING1 protein, human; C065679:icatibant; D005174:Factor XII; D001920:Bradykinin