Resistance to activated protein C caused by a factor V gene mutation

Research output: Contribution to journalArticlepeer-review

Abstract

Each year, approximately one in 1000 individuals suffers from venous thromboembolism. The pathogenesis of the disease is multifactorial and a thrombotic event is the result of a combination of genetic and circumstantial risk factors. Until recently, genetic defects could only be identified in a minority of thrombosis patients. The discovery of inherited resistance to activated protein C as a risk factor for thrombosis changed the situation for the better. In Western countries, activated protein C resistance is found in 20% to 60% of patients with thrombosis. Activated protein C resistance is caused by a single point mutation in the Factor V gene, leading to replacement of Arg(R)506 in the activated protein C cleavage site of Factor V with a Gln(Q). As a result, the activated protein C-mediated cleavage and inhibition of mutated Factor V (FV:Q506) is impaired, which leads to increased thrombin generation, a hypercoagulable state, and a life-long increased risk of thrombosis.

Original languageEnglish
Pages (from-to)358-364
Number of pages7
JournalCurrent Opinion in Hematology
Volume2
Issue number5
Publication statusPublished - 1995 Sep

Subject classification (UKÄ)

  • Medicinal Chemistry

Keywords

  • anticoagulant agent
  • blood clotting factor 5
  • protein C
  • aged
  • drug resistance
  • genetic predisposition
  • genetics
  • human
  • point mutation
  • review
  • risk factor
  • thrombophlebitis

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