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FV-Leiden- und Prothrombin-G20210A-Mutation

Genetische Testung und Konsequenzen für die Behandlung

Factor V Leiden and prothrombin G20210A mutations

Genetic testing and its effect on treatment

Zusammenfassung

Die Faktor-V-Leiden-Mutation und die Prothrombin-G20210A-Mutation sind mit einer Inzidenz von 2–4% und etwa 1% die häufigsten genetisch determinierten thrombophilen Risikofaktoren. Während der thrombophile Mechanismus der FV-Leiden-Mutation auf einer Hemmung der antikoagulatorischen Aktivität von aktiviertem Protein C (APC) beruht, ist der molekulare Mechanismus der Prothrombin-G20210A-Mutation nicht eindeutig geklärt. Das Vorliegen beider Mutationen erhöht das Risiko für eine venöse Thrombose, hat aber keinen wesentlichen Einfluss auf das Rezidivrisiko nach einer spontanen venösen Thrombose. Deswegen kann der Mutationsnachweis die klinische Diagnose einer Thrombophilie zwar bestätigen, beeinflusst aber – bis auf homozygote und compound-heterozygote Mutationsträger – das therapeutische Vorgehen nicht.

Abstract

Factor V Leiden mutation and the prothrombin G20210A variant are the most common thrombophilic risk factors identified so far, with incidences of 2–4% and 1%, respectively. While the former is associated with the APC resistence phenotype, the prothrombotic phenotype of the prothrombin G20210A variant remains unclear. The presence of each of the mutations increases the risk of venous thromboembolism. However, the risk of recurrent venous thromboembolism is not significantly enhanced. Testing for both prothrombotic mutations can confirm the clinical diagnosis of thrombophilia but has no effect on the anticoagulant management of these patients.

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Correspondence to B. Pötzsch.

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Pötzsch, B. FV-Leiden- und Prothrombin-G20210A-Mutation. medgen 20, 218–222 (2008). https://doi.org/10.1007/s11825-008-0105-z

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Schlüsselwörter

  • Venöse Thrombose
  • Thrombophilie
  • Faktor-V-Leiden
  • Prothrombin G20210A
  • Thrombophiliediagnostik

Keywords

  • Venous thrombosis
  • Thrombophilia
  • Factor V Leiden
  • Prothrombin G20210A
  • Thrombophilia testing