Die hereditäre Thrombophilie

Zusammenfassung

Die rasante Entwicklung in der Aufklärung angeborener Gerinnungsdefekte, nicht zuletzt durch den Einsatz der molekulargenetischen Diagnostik, hat die Erfolgsrate bei der Ursachenklärung von Thrombosen in den letzten fünf Jahren signifikant erhöht. Die Prävalenz der Thrombophilie wird mit 1 :2500-5000 angegeben und ist somit doppelt so hoch wie die klinisch relevanter Störungen, die mit einer Blutungsneigung einhergehen. Die häufigsten Ursachen der hereditären Thrombophilie, die aktivierte Protein-C-Resistenz, Prothrombinvariante G20210A, Antithrombin-, Protein-C- und Protein-S-Mangel bzw. -dysfunktion sowie die Hyper-homocysteinämie werden hinsichtlich ihrer molekulargenetischen Grundlage, ihres Pathomechanismus, analytischen Besonderheiten und möglicher Therapie beschrieben. Die hereditäre Thrombophilie gilt mittlerweile als Multigendefekt, deren Abklärung anzuraten ist, da sich hieraus für weitere Familienmitglieder in der Prophylaxe und der Therapie betroffener Probanden wichtige therapeutische Konsequenzen ergeben.

Schlüsselwörter

Hereditäre Thrombophilie - Thromboseneigung - Hyperkoagulabilität - molekulargenetische Defekte

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