Department of Surgery, Division of Vascular Surgery, Stanford University School of Medicine, CA (R.A.B., E.F.).
Department of Epidemiology, University of Washington, Seattle (N.L.S.).
Circ Res. 2021 Jun 11;128(12):1988-2002. doi: 10.1161/CIRCRESAHA.121.318322. Epub 2021 Jun 10.
Venous disease is a term that broadly covers both venous thromboembolic disease and chronic venous disease. The basic pathophysiology of venous thromboembolism and chronic venous disease differ as venous thromboembolism results from an imbalance of hemostasis and thrombosis while chronic venous disease occurs in the setting of tissue damage because of prolonged venous hypertension. Both diseases are common and account for significant mortality and morbidity, respectively, and collectively make up a large health care burden. Despite both diseases having well-characterized environmental components, it has been known for decades that family history is an important risk factor, implicating a genetic element to a patient's risk. Our understanding of the pathogenesis of these diseases has greatly benefited from an expansion of population genetic studies from pioneering familial studies to large genome-wide association studies; we now have multiple risk loci for each venous disease. In this review, we will highlight the current state of knowledge on the epidemiology and genetics of venous thromboembolism and chronic venous disease and directions for future research.
静脉疾病是一个广泛涵盖静脉血栓栓塞疾病和慢性静脉疾病的术语。静脉血栓栓塞和慢性静脉疾病的基本病理生理学不同，因为静脉血栓栓塞是由于止血和血栓形成之间的失衡引起的，而慢性静脉疾病则发生在由于长期静脉高压导致组织损伤的情况下。这两种疾病都很常见，分别导致了显著的死亡率和发病率，共同构成了巨大的医疗负担。尽管这两种疾病都有明确的环境因素，但几十年来人们已经知道，家族史是一个重要的危险因素，这暗示了患者的风险存在遗传因素。从开创性的家族研究到大型全基因组关联研究，我们对这些疾病发病机制的认识大大得益于人群遗传研究的扩展；我们现在已经有了每个静脉疾病的多个风险位点。在这篇综述中，我们将重点介绍静脉血栓栓塞和慢性静脉疾病的流行病学和遗传学的现有知识状况，并为未来的研究指明方向。
