Das Janusgesicht der Einzelfaktoren

Zusammenfassung

Das Wissen um eine Blutungsneigung infolge Einzelfaktorenmangel ist Allgemeingut. Das Gegenteil – eine Thromboseneigung infolge hoher Einzelfaktorenspiegel – scheint nicht überraschend, doch erst in jüngster Zeit wurde ein Zusammenhang zwischen dem Spiegel von Einzelfaktoren und dem Risiko für venöse Thromboembolien beschrieben. Gut dokumentiert ist die Rolle hoher Faktor- VIII(FVIII)-Spiegel. Das Risiko für ein erstmaliges Thromboseereignis ist ähnlich hoch wie das Risiko infolge einer APC-Resistenz. Ein familiärer Hintergrund wurde für hohe FVIII-Spiegel beschrieben. Veränderungen innerhalb des FVIII- oder von-Willebrand-Faktor(VWF)-Gens scheinen nicht verantwortlich zu sein, da Polymorphismen dieser Gene nicht mit venösen Thromboembolien assoziiert sind. Eine erhöhte FVIII/VWF-Ratio deutet auf eine verminderte FVIII-Clearance hin. Möglicherweise ist das Low-density-lipoprotein- receptor-related-Protein – dieser Rezeptor vermittelt die hepatische Clearance des FVIII-VWF-Komplexes – involviert. Der Prothrombin-G20210A-Polymorphismus ist mit hohen Prothrombinspiegeln assoziiert, die vielleicht über eine Fibrinolyseresistenz des Gerinnsels zum Thromboserisiko beitragen.

Summary

Bleeding tendency as a result of clotting factor deficiency is common knowledge. The counterpart, i.e. thrombophilia due to high clotting factor levels, is not surprising, but an association between factor level and thrombosis risk has just recently been described. The role of high factor VIII (FVIII) levels is well documented. The risk of high FVIII levels for the first event is similarly high as that of APC resistance. There is a familiar background of high FVIII levels. Alterations within the FVIII or the von Willebrand factor genes seem to be not causal since polymorphisms of these genes are not associated with venous thromboembolism. An increased FVIII/VWF ratio indicates a reduced FVIII clearance. Probably, the low-density lipoprotein receptorrelated protein, i.e. the receptor mediating the hepatic clearance of the FVIII-VWF-complex, is involved. The well known prothrombin G20210A polymorphism is associated with high prothrombin levels perhaps contributing to thrombosis risk via clot resistance against fibrinolysis.

Schlüsselwörter

Thrombophilie - Faktor VIII - Prothrombin

Keywords

Thrombophilia - Factor VIII - Prothrombin

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