Franchini Massimo
Clin Chem Lab Med. 2014 Apr;52(4):495-7. doi: 10.1515/cclm-2013-0559.
In the past decades, the recognition of several inherited thrombophilic traits has greatly improved our knowledge of the pathogenesis of venous thromboembolism, explaining about half of all idiopathic cases. As a consequence, thrombophilia testing has enormously increased in the past years for various clinical conditions. In this paper, the current indications of the most commonly tested thrombophilic abnormalities (i.e., Factor V Leiden, prothrombin G20210A mutation, protein C, S and antithrombin deficiencies) are analysed. When used appropriately thrombophilia testing has a positive impact on the health care of the people tested and their relatives.
在过去几十年中，对几种遗传性血栓形成倾向特征的认识极大地增进了我们对静脉血栓栓塞发病机制的了解，约半数特发性病例由此得以解释。因此，在过去几年里，针对各种临床情况的血栓形成倾向检测大幅增加。本文分析了最常检测的血栓形成倾向异常（即因子V莱顿突变、凝血酶原G20210A突变、蛋白C、蛋白S和抗凝血酶缺乏）的当前适应证。若使用得当，血栓形成倾向检测对受检者及其亲属的医疗保健会产生积极影响。
