HELLP syndrome associated with factor V R506Q mutation

Br J Haematol. 1996 Mar;92(4):999-1001. doi: 10.1046/j.1365-2141.1996.410947.x.

Abstract

The pathogenesis of HELLP (haemolysis, elevated liver enzyme and low platelet count) syndrome, a severe presentation of pre-eclampsia, is still an enigma. Activated protein C resistance resulting from a mutation in coagulation factor V has recently emerged as the leading cause of thrombosis in pregnancy. We report on two patients with HELLP syndrome who were found to be heterozygous for factor V R506Q mutation, leading to activated protein C resistance. These findings suggest that the pathogenesis of HELLP syndrome is associated with a thrombotic process, and point to the potential benefit of anti-thrombotic therapy in this condition.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Factor V / genetics*
  • Female
  • HELLP Syndrome / genetics*
  • Humans
  • Mutation*
  • Pregnancy
  • Protein C / genetics

Substances

  • Protein C
  • Factor V