Cerebrovascular diseases are considered in a different way concerning their etiology with regard to arterial and venous occlusion. The role of
thrombophilia in this context remains undetermined. For this reason, a case-control study was conducted including a total of 202 patients (154 females, 48 males) aged from 18 to 76 years (mean: 39.8 years) suffering either from cerebral sinus
venous thrombosis (nā=ā101) or from arterial
ischemic stroke (nā=ā101). Study groups were evaluated on the basis of age- and gender-matched pairs. Gene mutations of factor V-1691 (
factor V Leiden) and prothrombin-20210 being considered as the most common
thrombophilia markers were analyzed in this study.
Factor V Leiden-mutations were found in 16.8% of patients with cerebral sinus
venous thrombosis (CVT) and in 17.8% of patients with arterial
ischemic stroke (AIS), which was significantly more frequent than in controls at a rate of 4.95% (
ORs: 3.89 and 4.16).
Prothrombin-mutations were significantly more frequent in CVT at a rate of 14.9% versus 2.97% in controls (OR: 5.70). This does not apply for AIS showing a rate of 4.95%
prothrombin-mutations. Rates of
factor V Leiden-mutations are not different in CVT compared with AIS. In contrast, however,
prothrombin-mutations were significantly more frequent in CVT than in AIS with a rate of 14.9% versus 4.95% (OR 3.35). Furthermore, 3 cases with combined heterozygosity of
factor V Leiden- and
prothrombin-mutation have been identified in CVT, but not in AIS or controls. All of the above mentioned mutations were exclusively heterozygous. We conclude from these data that
thrombophilia in terms of
factor V Leiden genotype is a risk factor for both CVT and AIS in equal measure. In contrast, prothrombin-20210-mutations were different playing a significant role in the pathogenesis of cerebral sinus vein
thrombosis, but not in arterial
ischemic stroke. Also, the combined occurrence of heterozygous
prothrombin- and
factor V Leiden-mutation clearly favors the emergence of cerebral sinus
venous thrombosis. Therefore, in terms of
thrombophilia such as investigated in this study, pathogenesis of arterial and venous occlusions in
cerebrovascular disease has to be regarded as different.