Die hereditäre Thrombophilie

Frauke Bergmann; L. Kochhan; U. Budde

doi:10.1055/s-0038-1660383

Hämostaseologie, Inhaltsverzeichnis

Hamostaseologie 1999; 19(02): 77-85
DOI: 10.1055/s-0038-1660383

Übersichtsarbeiten/Review Articles

Schattauer GmbH

Die hereditäre Thrombophilie

Fortschritte in der Diagnostik

Frauke Bergmann

¹Labor Keeser, Arndt & Partner, Hamburg

,

L. Kochhan

¹Labor Keeser, Arndt & Partner, Hamburg

,

U. Budde

¹Labor Keeser, Arndt & Partner, Hamburg

› Institutsangaben

Abstract

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

Volltext

Referenzen

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