C1 inhibitor deficiency: consensus document

Clin Exp Immunol. 2005 Mar;139(3):379-94. doi: 10.1111/j.1365-2249.2005.02726.x.

Abstract

We present a consensus document on the diagnosis and management of C1 inhibitor deficiency, a syndrome characterized clinically by recurrent episodes of angio-oedema. In hereditary angio-oedema, a rare autosomal dominant condition, C1 inhibitor function is reduced due to impaired transcription or production of non-functional protein. The diagnosis is confirmed by the presence of a low serum C4 and absent or greatly reduced C1 inhibitor level or function. The condition can cause fatal laryngeal oedema and features indistinguishable from gastrointestinal tract obstruction. Attacks can be precipitated by trauma, infection and other stimulants. Treatment is graded according to response and the clinical site of swelling. Acute treatment for severe attack is by infusion of C1 inhibitor concentrate and for minor attack attenuated androgens and/or tranexamic acid. Prophylactic treatment is by attenuated androgens and/or tranexamic acid. There are a number of new products in trial, including genetically engineered C1 esterase inhibitor, kallikrein inhibitor and bradykinin B2 receptor antagonist. Individual sections provide special advice with respect to diagnosis, management (prophylaxis and emergency care), special situations (childhood, pregnancy, contraception, travel and dental care) and service specification.

Publication types

  • Consensus Development Conference
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Angioedema / diagnosis
  • Angioedema / immunology*
  • Angioedema / therapy
  • Animals
  • Child
  • Complement C1 Inactivator Proteins / deficiency*
  • Complement C1 Inactivator Proteins / therapeutic use
  • Complement C4 / analysis
  • Complement C4 / deficiency
  • Emergencies
  • Female
  • Humans
  • Male
  • Pregnancy
  • Pregnancy Complications, Hematologic / therapy
  • Syndrome

Substances

  • Complement C1 Inactivator Proteins
  • Complement C4