Thrombophilieabklärung

Zusammenfassung

Thromboembolische Erkrankungen nehmen bezüglich Morbidität und Mortalität einen wichtigen Stellenwert ein. Mit den heute zur Verfügung stehenden Methoden kann in 40–70% der Thrombosepatienten eine Ursache nachgewiesen werden. Von vielen heute bekannten hereditären und erworbenen Thrombophilien sind Prävalenz und Thromboserisiko gut bekannt, so vom Antithrombin-, Protein-C-, Protein-S-Mangel, der APC-Resistenz, der G20210A-Prothrombinmutation, den Antiphospholipid-Antikörpern/Lupus-Antikoagulans und der Hyperhomozysteinämie. Diese etablierten thrombophilen Defekte sind denn auch hauptsächlicher Gegenstand der Thrombophilieabklärung, erlaubt doch ihr Ausschluß beziehungsweise isolierter oder multipler Nachweis das Thromboserisiko und damit Art und Dauer der Prophylaxe besser festzulegen. Der vorliegende Artikel geht darauf ein, bei welchem Patienten eine Thrombophilieabklärung indiziert ist, welche Parameter mit welchen Methoden gesucht werden, wann die Abklärung durchzuführen ist und welche Implikationen sie haben kann.

Summary

Thromboembolism is an important disease regarding morbidity and mortality. With the methods available today we are able to identify a causal defect in 40–70% of patients with thrombosis. Prevalence and thrombotic risk of many hereditary and acquired thrombophilias such as deficiency of antithrombin, protein C, protein S, APC-resistance, prothrombin G20210A mutation, hyperhomocysteinemia and antiphospholipid antibodies are well known today. Thus, exclusion or demonstration of one or multiple of these thrombophilic defects may help us to estimate the thrombotic risk of a patient and to decide on the form and duration of thrombosis prophylaxis. In the following overview several questions with respect to thrombophilia investigation will be discussed such as: which patient should be investigated, which tests should be performed, at what time and with which possible implications.

Schlüsselwörter

Thrombophilieabklärung - venöse Thromboembolien

Keywords

Thrombophilia investigation - venous thromboembolism

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