Zusammenfassung
Eine Thrombophilieabklärung umfasst die Suche nach hereditären und erworbenen Thrombophilien. Zur ersten Kategorie gehören die Faktor-V-Leiden-Mutation, die Prothrombinmutation, der hereditäre Antithrombin‑, Protein-C- und Protein-S-Mangel sowie bestimmte kongenitale Dysfibrinogenämien. Der Stellenwert hereditärer Thrombophilien als Risikomarker für Rezidivthrombosen ist gering. Zur zweiten Kategorie gehören das Antiphospholipidantikörpersyndrom, myeloproliferative Neoplasien und die paroxysmale nächtliche Hämoglobinurie. Die Durchführung der Laboruntersuchung und die Bewertung ihrer Befunde erfordern die korrekte Indikationsstellung, die Wahl des geeigneten Zeitpunkts und die Berücksichtigung von klinischen Umständen und präanalytischen Einflüssen.
Abstract
A laboratory investigation of thrombophilia comprises hereditary and acquired laboratory markers. The first category includes the factor V Leiden mutation, prothrombin mutation, hereditary antithrombin deficiency, protein C deficiency, protein S deficiency and certain congenital dysfibrinogenemias; however, hereditary thrombophilias are of little value as indicators of an elevated risk of recurrent thrombosis. The second category of acquired thrombophilia includes antiphospholipid antibody syndrome, myeloproliferative neoplasms and paroxysmal nocturnal hemoglobinuria. The correct indications and timing of the investigation as well as consideration of the clinical circumstances and preanalytical influencing factors are of major importance for a valid interpretation of laboratory results.
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B. Toth, Innsbruck
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Studt, JD. Grundlagen der Gerinnungsdiagnostik (Thrombophilieabklärung). Gynäkologische Endokrinologie 17, 129–133 (2019). https://doi.org/10.1007/s10304-019-0264-9
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DOI: https://doi.org/10.1007/s10304-019-0264-9