Update Thrombophilie

Zusammenfassung

Es wird ein Überblick über Definitionen, Epidemiologie, Klinik der angeborenen und erworbenen Thrombophilien gegeben, wobei der Fokus auf evidenzbasierten Daten liegt. Selektives Thrombophilie-Screening, das auf einer positiven Eigen- und/oder Familienanamnese beruht, ist wesentlich kosteneffektiver als ein universelles Screening. Bei der Mehrzahl der Patienten mit venösen Thrombosen beeinflussen die Ergebnisse eines Thrombophilie-Screenings nicht die Therapiedauer mit oralen Antikoagulanzien. Die einzige Gruppe, die eindeutig von einem Screening in dieser Situation profitiert, sind Patienten mit einem Anti - phospholipidsyndrom, da bei ihnen durch eine prolongierte Antikoagulation das hohe Rezidivthromboserisiko minimiert werden kann. Da das Thromboserisiko während einer Schwangerschaft und im Wochenbett deutlich erhöht ist, kann ein Screening bei ausgewählten Patientinnen mit venösen Thrombosen in der Vorgeschichte indiziert sein, um daraus ggf. eine Indikation für eine Antikoagulation während der Schwangerschaft und im Wochenbett abzuleiten. Darüber hinaus lassen sich signifikante Assoziationen von thrombophilen Neigungen mit Früh- und Spätaborten nachweisen, wobei unklar bleibt, inwieweit Heparine oder Low-dose-Aspirin als Therapeutika bei betroffenen Frauen in einer nachfolgenden Schwangerschaft eingesetzt werden sollen, da multizentrische, placebokontrollierte Studien für diese Indikationen noch ausstehen.

Summary

A survey on definitions, epidemiology, clinical manifestations of congenital and acquired thrombophilias is given with focus on evidence-based data. Diagnostic and therapeutical strategies are presented. Selective thrombophilia screening based on previous personal and/or family history of venous thromboembolism is more cost-effective than universal screening in all patient groups. In the majority of patients with venous thrombosis the results of thrombophilia screening do not influence the duration of oral anticoagulation. The only patient population who clearly profits from thrombophilia screening in this situation are patients with a newly diagnosed antiphospholipid syndrome, because prolonged anticoagulation can avoid the high incidence of recurrence in this patient population. Because of the increased risk of venous thrombosis during pregnancy and the puerperium, thrombophilia screening is indicated in selected patients with a previous history of venous thrombosis to be able to decide whether anticoagulation is necessary when these patients become pregnant. Significant associations with early and late pregnancy loss are observed for patients with thrombophilia while it remains unknown whether these patients profit from anticoagulation with heparin or low dose aspirin during their next pregnancy since placebo-controlled multicenter trials are not yet available.

Schlüsselwörter

Thrombophilie - venöse Thrombose - Antithrombinmangel - Protein-C-Mangel - Protein-S-Mangel - Faktor-V-Leiden - Prothrombinvariation - Lupusantikoagulans

Keywords

Thrombophilia - venous thrombosis - antithrombin deficiency - protein C deficiency - protein S deficiency - factor V Leiden - prothrombin variation - lupus anticoagulant

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