title: Factor V gene mutation is a risk factor for cerebral venous thrombosis.
abstract: 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.
authors.affiliation: A Blanchi Bonomi Hemophllia and Thrombosis Center, Milano, Italy.
authors.forename: I
authors.initials: I
authors.lastname: Martinelli
authors.forename: G
authors.initials: G
authors.lastname: Landi
authors.forename: G
authors.initials: G
authors.lastname: Merati
authors.forename: R
authors.initials: R
authors.lastname: Cella
authors.forename: A
authors.initials: A
authors.lastname: Tosetto
authors.forename: P M
authors.initials: PM
authors.lastname: Mannucci
mesh_terms: D000328:Adult; D001483:Base Sequence; D002550:Cerebral Veins; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D002542:Intracranial Embolism and Thrombosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D011247:Pregnancy; D020151:Protein C Deficiency; D012189:Retrospective Studies; D012307:Risk Factors
chemical_list: D005165:Factor V