Zusammenfassung
Venöse Thrombosen stellen mit ihrem Risiko für Lungenembolien ein großes gesundheitliches Problem dar. Die jährliche Inzidenz wird mit 1/1000 angegeben (Bertina et al. 1995; Dahlbäck 1995). Situationen wie große Operationen, Frakturen, Immobilisation, entzündliche Prozesse sowie die Einnahme oraler Kontrazeptiva erhöhen das Thromboserisiko. Bisher bekannte Defekte mit einer Prädisposition für Thrombosen wie Mangel oder Dysfunktion von Antithrombin III, Protein C oder Protein S führten nur in 5 -10 % der Fälle zur Aufklärung der Thromboseursache (Bertina et al. 1995). Seit der Erstbeschreibung durch Dahlbäck et al. 1993 wird eine Resistenz für aktiviertes Protein C (APC) als eine wesentliche Ursache für die Entstehung von venösen Thrombosen angesehen (Bertina et al. 1995). Im Gegensatz zu den bisher bekannten Thromboserisikofaktoren tritt eine erhöhte APC-Resistenz mit hoher Prävalenz in der Normalbevölkerung auf (Dahlbäck 1994, Dahlbäck et al. 1993). 1994 beschrieben Bertina et al., daß der Phenotyp der APC-Resistenz assoziert ist mit einer homo- oder heterozygoten Punktmutation im Faktor-V-Gen. Der Austausch der Aminosäure Arginin gegen Glutamin in Position 506 (Leiden-Mutation) erhöhte das Thromboserisiko 5- bis lofach bei heterozygoten und 50- bis loofach bei homozygoten Merkmalsträgern (Dahlbäck 1995). Bertina et al. (1995) fanden eine pathologische APC-Resistenz bei 46% der Thrombosepatienten, die in 80% assoziiert war mit der Leiden-Mutation. Die Prävalenz der heterozygoten Merkmalsträger mit Faktor-V-Mutation wird für Mitteleuropa mit 5 %, in Schweden mit 10 % angenommen (Dahlbäck 1995).
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Siegert, G. et al. (1997). Vergleich der APC-Response in drei unterschiedlichen Testsystemen mit dem Ergebnis der Faktor-V-Genotypisierung (Arg506 Gin). In: 26. Hämophilie-Symposion 1995. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-60418-8_28
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