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(Stroke. 1996;27:1721-1723.)
© 1996 American Heart Association, Inc.


Articles

Factor V Leiden Mutation in Cerebral Venous Thrombosis

Mathieu Zuber, MD; Pierre Toulon, PhD; Laurence Marnet Jean-Louis Mas, MD

the Service de Neurologie, Centre R. Garcin, Hopital Sainte-Anne (M.Z., J.-L.M.), and Laboratoire d'Hemostase, Hopital Cochin (P.T., L.M.), Paris, France.

Background and Purpose 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.


Key Words: coagulation • genetics • hereditary disease • sinus thrombosis




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