Normalization of C1 Inhibitor in a Patient with Hereditary Angioedema

N Engl J Med. 2024 Jul 4;391(1):56-59. doi: 10.1056/NEJMoa2400403.

Abstract

Hereditary angioedema is a potentially life-threatening autosomal dominant condition, causing attacks of angioedema due to failure to regulate bradykinin. Nearly all cases of hereditary angioedema are caused by mutations in the gene encoding C1 inhibitor, SERPING1. C1 inhibitor is a multifunctional protein produced in the liver that regulates the kallikrein-kinin system at multiple points. An infant with genetically confirmed hereditary angioedema and low C1 inhibitor levels (but without previous episodes of angioedema) underwent liver transplantation for biliary atresia, an unrelated condition. Liver transplantation led to normalization of the C1 inhibitor level and function. To our knowledge, this represents the first patient to be potentially cured of hereditary angioedema.

Publication types

  • Case Reports

MeSH terms

  • Angioedemas, Hereditary* / complications
  • Angioedemas, Hereditary* / drug therapy
  • Angioedemas, Hereditary* / genetics
  • Complement C1 Inhibitor Protein* / therapeutic use
  • Female
  • Humans
  • Infant
  • Liver Transplantation*
  • Male

Substances

  • Complement C1 Inhibitor Protein
  • SERPING1 protein, human