Thrombophilia screening in young patients with cryptogenic stroke

Summary

The clinical relevance of thrombophilia screening in stroke patients is still a matter of debate, and descriptions of larger patterns of genetic variability are rare. We assessed the frequency of hereditary hypercoagulability in young patients with cryptogenic stroke (n = 44) and in healthy blood donors (n = 282) without prior cardiovascular event. Furthermore, we focused on the impact of thrombophilia screening on secondary stroke prevention. Results: Compared to the control group (19–67 years; median 38.5 years; 64% women), there was a lower prevalence of the FVII-R353Q mutation (p = 0.033) in stroke patients (17–52 years; median 36 years; 59.1% women). Of note, the FVII-R353Q mutation lowers FVII plasma levels, probably reducing the risk of cardiovascular events. The prevalence of the remaining 13 gene polymorphisms did not differ significantly. However, the prevalence of FV Leiden mutation tended to be higher among stroke patients. Conclusion: Overall, extended screening for inherited thrombophilia had an impact on medical stroke prevention in every sixth patient with cryptogenic stroke.

Zusammenfassung

Die Wertigkeit einer Thrombophiliediagnostik bei Schlaganfallpatienten wird kontrovers gesehen. Ziel dieser retrospektiven Studie war es, die Häufigkeit genetisch determinierter thrombophiler Diathesen bei jungen Patienten mit kryptogenem Schlaganfall (n = 44) im Vergleich zu Blutspendern ohne bisheriges vaskuläres Ereignis (n = 282) zu erfassen und die Relevanz der Thrombophiliediagnostik für die Schlaganfallprävention zu beurteilen. Ergebnisse: Im Vergleich zu gesunden Probanden (19–67 Jahre; Median 38,5 Jahre; 64,3% Frauen) zeigte sich in der Schlaganfallkohorte (17–52 Jahre; Median 36 Jahre; 59,1% Frauen) eine niedrigere Prävalenz der FVII-R353Q-Mutation (p = 0,033), die protektiv für das Auftreten von kardiovaskulären Ereignissen sein könnte. Die Verteilung von weiteren 13 Genpolymorphismen unterschied sich hingegen nicht signifikant. Es fand sich lediglich ein Trend für eine höhere Prävalenz der FV-Leiden Mutation in der Schlaganfallkohorte. Schlussfolgerung: Anhand der Befunde der genetischen Thrombophiliediagnostik erfolgte bei einem Sechstel der jungen Patienten mit kryptogenem Schlaganfall eine Umstellung der bisherigen medikamentösen Sekundärprävention.

Keywords

Ischaemic stroke - secondary stroke prevention - FVII-R353Q mutation - genetics

Schlüsselwörter

Ischämischer Schlaganfall - Sekundärprävention - FVII-R353Q-Mutation - Genetik

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