Factor V gene mutation is a risk factor for cerebral venous thrombosis

Thromb Haemost. 1996 Mar;75(3):393-4.


To evaluate the association between coagulation defects and cerebral venous thrombosis, a case-control study was conducted in 25 patients who had no autoimmune, neoplastic or infections disease and 75 healthy individuals. There were no patients with deficiency of protein C or protein S. Four had resistance to activated protein C (APC) and one had APC resistance associated with antithrombin deficiency. APC resistance was investigated by DNA analysis, and diagnosed by the presence of a point mutation in the factor V gene, which predicts replacement of Arg506 with Gln at one of the two APC cleavage sites in activated factor V. The prevalence of APC resistance was 20% in patients and 2.7% in controls. This difference was statistically significant (p = 0.01) and the odds ratio was 9.1. A circumstantial factor predisposing to cerebral venous thrombosis (such as oral contraceptive intake, pregnancy, puerperium, trauma or prolonged immobilization) was reported in 72% of cases. In conclusion, APC resistance is the most frequent coagulation abnormality associated with cerebral venous thrombosis.

MeSH terms

  • Adult
  • Base Sequence
  • Cerebral Veins
  • Factor V / genetics*
  • Female
  • Humans
  • Intracranial Embolism and Thrombosis / genetics*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation
  • Pregnancy
  • Protein C Deficiency
  • Retrospective Studies
  • Risk Factors


  • Factor V