Hereditary Angioedema with Normal C1 Inhibitor: Update on Evaluation and Treatment

Immunol Allergy Clin North Am. 2017 Aug;37(3):571-584. doi: 10.1016/j.iac.2017.04.004.

Abstract

A new form of hereditary angioedema (HAE) was identified in the year 2000. Its clinical appearance resembles HAE types I and II, which are caused by mutations that result in a deficiency of C1 inhibitor (C1-INH). In patients with the new form of HAE, C1-INH plasma levels and function values are normal, so it's termed HAE with normal C1-INH (HAE-nC1). HAE-nC1, in a subgroup of patients, is thought to be caused by mutations that affect the F12 gene. The diagnosis of HAE-nC1 is based on history and clinical criteria. There are no licensed drugs with proven treatment effects for HAE-nC1.

Keywords: Bradykinin; C1-inhibitor; Factor XII; Hereditary angioedema; Mutation; Plasmin.

Publication types

  • Review

MeSH terms

  • Angioedemas, Hereditary / diagnosis
  • Angioedemas, Hereditary / drug therapy*
  • Angioedemas, Hereditary / etiology
  • Angioedemas, Hereditary / prevention & control
  • Bradykinin / metabolism
  • Complement C1 Inhibitor Protein / therapeutic use*
  • Diagnosis, Differential
  • Disease Management
  • Factor XII / genetics
  • Factor XII / metabolism
  • Fibrinolysin / genetics
  • Fibrinolysin / metabolism
  • Genetic Predisposition to Disease
  • Humans
  • Mutation
  • Phenotype
  • Premedication
  • Protein Binding
  • Signal Transduction
  • Treatment Outcome

Substances

  • Complement C1 Inhibitor Protein
  • SERPING1 protein, human
  • Factor XII
  • Fibrinolysin
  • Bradykinin