Division of ClinicalLaboratory Sciences, Department ofLaboratory Medicine, University of Debrecen,Faculty of Medicine, Debrecen, Hungary
Department of Cardiology and Cardiosurgery, University of Debrecen,Faculty of Medicine, Debrecen, Hungary
Kardiol Pol. 2019 Apr 18;77(4):419-429. doi: 10.33963/KP.14804. Epub 2019 Apr 25.
Atherothrombotic diseases (ATEs) and venous thromboembolism (VTE) have been traditionally considered to have a distinct pathogenesis. Today, a growing body of evidence on the pathophysiology of thrombus formation has convincingly proved that they share more mutual risk factors than previously recognized. It has been shown in a number of case‑control studies that there is a significant risk for a subsequent cardiovascular disease after VTE, although this risk is low or at most moderate. In the past 2 decades, the role of each inherited risk factor for VTE in relation to ATE has been intensively studied. Unfortunately, a large body of contradictory findings has been published that hinders consensus and transformation of knowledge into clinical practice. Complicated gene‑gene interactions, small sample sizes, heterogeneous genetic and environmental patient backgrounds, confounding factors, and varied methodological designs may have contributed to opposing findings. In the case of rare thrombophilias, conclusions must be summarized based on case reports or case series, as only few case‑control and cohort studies are available. In this review we focus on available evidence and controversies regarding the relationship between the classic inherited VTE risk factors (factor V Leiden, prothrombin 20210A, deficiencies of antithrombin, protein C, and protein S) and the risk of myocardial infarction (MI). We conclude that the risk of MI in patients with common inherited thrombophilia is generally modest. However, in patients with deficiencies of antithrombin, protein C, or protein S, the risk of MI or other ATEs is not negligible. A personalized clinical approach is suggested when testing for inherited thrombophilia in a patient with MI.
动脉血栓形成疾病（ATEs）和静脉血栓栓塞症（VTE）传统上被认为具有不同的发病机制。如今，越来越多的血栓形成病理生理学证据令人信服地证明，它们比以前认识到的具有更多的共同危险因素。许多病例对照研究表明，VTE 后发生随后的心血管疾病的风险显著增加，尽管这种风险较低或最高为中度。在过去的 20 年中，每种遗传性 VTE 危险因素与 ATE 的关系都得到了深入研究。不幸的是，发表了大量相互矛盾的发现，这阻碍了共识的形成和知识向临床实践的转化。复杂的基因-基因相互作用、样本量小、遗传和环境患者背景异质性、混杂因素以及不同的方法学设计可能导致了相反的发现。在罕见的血栓形成倾向的情况下，必须根据病例报告或病例系列进行总结结论，因为只有少数病例对照和队列研究可用。在这篇综述中，我们重点关注有关经典遗传性 VTE 危险因素（因子 V 莱顿、凝血酶原 20210A、抗凝血酶、蛋白 C 和蛋白 S 缺乏）与心肌梗死（MI）风险之间关系的现有证据和争议。我们的结论是，普通遗传性血栓形成倾向患者的 MI 风险通常适中。然而，在抗凝血酶、蛋白 C 或蛋白 S 缺乏的患者中，MI 或其他 ATE 的风险不容忽视。建议在 MI 患者中进行遗传性血栓形成倾向检测时采用个性化的临床方法。
