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

I. Martinelli, G. Landi, G. Merati, R. Cella, A. Tosetto, P. M. Mannucci

Research output: Contribution to journalArticlepeer-review


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 infectious 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.

Original languageEnglish
Pages (from-to)393-394
Number of pages2
JournalThrombosis and Haemostasis
Issue number3
Publication statusPublished - Mar 1996

ASJC Scopus subject areas

  • Hematology


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