Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome

Blood. 2008 Dec 1;112(12):4542-5. doi: 10.1182/blood-2008-03-144691. Epub 2008 Jul 24.

Abstract

The HELLP syndrome, defined by the existence of hemolysis, elevated liver enzymes, and low platelet count, is a serious complication of pregnancy-related hypertensive disorders and shares several clinical and biologic features with thrombotic microangiopathy (TMA). Several recent studies have clearly shown that an abnormal control of the complement alternative pathway is a major risk for the occurrence of a peculiar type of TMA involving mainly the kidney. The aim of this study was to screen for complement abnormalities in 11 patients with HELLP syndrome and renal involvement. We identified 4 patients with a mutation in one of the genes coding for proteins involved in the regulation of the alternative pathway of complement. Our results suggest that an abnormal control of the complement alternative pathway is a risk factor for the occurrence of HELLP syndrome.

Publication types

  • Multicenter Study

MeSH terms

  • Adult
  • Complement Factor H / genetics*
  • Complement System Proteins / genetics
  • DNA Mutational Analysis
  • Female
  • Fibrinogen / genetics*
  • Genetic Predisposition to Disease
  • Gestational Age
  • HELLP Syndrome / genetics*
  • Humans
  • Membrane Cofactor Protein / genetics*
  • Mutation, Missense*
  • Pregnancy
  • Risk Factors
  • Young Adult

Substances

  • Membrane Cofactor Protein
  • Complement Factor H
  • Fibrinogen
  • Complement System Proteins