Hereditary thrombophilias in ischemic stroke and sinus vein thrombosis:: diagnostic, therapy and meta-analysis

Hereditary thrombophilias are a heterogenous group of genetic coagulation disorders which, particularly in combination with acquired prothrombotic facto rs, induce a predisposition to thrombosis. After characterization of frequent thrombophilic syndromes like factor V-Leiden or the prothrombin 20210GA mutation, a number of case-control studies screened for the prevalence of these mutations in ischemic stroke and cerebral venous thrombosis (CVT). Our metaanalysis shows that factorV-Leiden and prothrombin are frequent and significantly associated with CVT (16.4% vs.4.9% or 4.3, P<0.001,and 12.1% vs.1.9% or 5.8, P<0.001). In ischemic stroke, only factor V-Leiden and not prothrombin is a weak but significant risk factor (5.9% vs. 2.6% or 1.6, P<0.001,and 4.7% vs. 3.3% or 1.4, P=0.1). The C677T homozygous point mutation in the MTHFR, a homocystein-degrading enzyme, was also associated with arterial stroke (16% Vs.15% or 1.5, P<0.001). For CVT,sufficient data are lacking. We therefore recommend screening for thrombophilia in CVT. In ischemic stroke, atrial premature complex (APC) resistance should be considered. As long as controlled studies are tacking, individual anticoagulant therapy must take hereditary and precipitating factors into account to assess potential thrombotic risk.