Thrombophilia: clinical aspects and testing guidelines
Keywords:
thrombophilia, activated protein C resistance, prothrombin G20210A, antithrombin III deficiency, protein C deficiency, protein S deficiency, hyperhomocysteinemia, antiphospholipid syndromeAbstract
Thrombophilia is an inherited or acquired condition that leads to an imbalance between procoagulant and anticoagulation mechanisms, thereby increasing the risk of thrombosis – most commonly venous thrombosis. This review presents the clinical genetic aspects of the most common inherited thrombophilia: factor V Leiden, prothrombin G20210A, antithrombin III deficiency, protein C deficiency and protein S deficiency, as well as antiphospholipid syndrome as an acquired thrombophilia. The aim of this review is to summarize the latest recommendations and indications for thrombophilia testing in different clinical scenarios, as well as current approaches to antithrombotic prophylaxis. The review highlights the need for selective, targeted testing for hereditary thrombophilia rather than broad routine panel screening.
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