title: [Hereditary thrombophilia with ischemiC stroke and sinus thrombosis. Diagnosis, therapy and meta-analysis].
abstract: Hereditary thrombophilias are a heterogenous group of genetic coagulation disorders which, particularly in combination with acquired prothrombotic factors, 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 meta-analysis shows that factor V-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 4.1% vs. 3.3% or 1.4, P = 0.1). The C677T homozygous point mutation in the MTHFR, a homocysteine-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 lacking, individual anticoagulant therapy must take hereditary and precipitating factors into account to assess potential thrombotic risk.
authors.affiliation: Klinik für Neurologie, Humboldt-Universität, Berlin. markus.weih@charite.de
authors.forename: M
authors.initials: M
authors.lastname: Weih
authors.forename: J
authors.initials: J
authors.lastname: Junge-Hülsing
authors.forename: S
authors.initials: S
authors.lastname: Mehraein
authors.forename: S
authors.initials: S
authors.lastname: Ziemer
authors.forename: K M
authors.initials: KM
authors.lastname: Einhäupl
mesh_terms: D002544:Cerebral Infarction / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D003937:Diagnosis, Differential; D005820:Genetic Testing; D006801:Humans; D012307:Risk Factors; D012851:Sinus Thrombosis, Intracranial / Q000235:genetics* / Q000628:therapy; D019851:Thrombophilia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy