Factor V Leiden mutation in cerebral venous thrombosis.
OBJECTIVE
Resistance to activated protein C is a common inherited risk factor for venous thrombosis, which is due to a mutation in coagulation factor V (factor V Leiden mutation). It is present in approximately 20% of unselected consecutive patients with deep vein thrombosis. The rate of resistance to activated protein C in patients with cerebral venous thrombosis (CVT) is unknown.


METHODS
We investigated the association of factor V mutation with CVT using a case-control study. Nineteen unselected patients with CVT and 57 healthy control subjects were tested for the point mutation.


RESULTS
The mutation was found in a heterozygous form in 4 of the 19 patients with CVT (21%) and in only 1 of the 57 control subjects (2%) (P = .02, Fisher's exact test). The prevalence of the coagulation defect found in our patients with CVT was consistent with that observed in previous studies in patients with deep vein thrombosis. In 3 of the 4 patients positive for the mutation, CVT developed in the presence of an acquired prothrombotic state, including oral contraceptive use in 2 patients and puerperium in the third.


CONCLUSIONS
Factor V Leiden mutation is a risk factor for CVT and may be the most common inherited coagulation defect associated with this condition.
Zuber
M
M
Service de Neurologie, Centre R. Garcin, Hôpital Sainte-Anne, Paris, France.
Toulon
P
P
Marnet
L
L
Mas
J L
JL
D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002550:Cerebral Veins; D003276:Contraceptives, Oral / Q000009:adverse effects; D005165:Factor V / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D002542:Intracranial Embolism and Thrombosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011644:Puerperal Disorders / Q000235:genetics; D012307:Risk Factors
D003276:Contraceptives, Oral; C095381:factor V Leiden; D005165:Factor V