Yilmaz Seyhan, Gunaydin Serdar
Department of Cardiovascular Surgery, Hittite University Corum Training and Research Hospital, Corum, Turkey
Department of Cardiovascular Surgery, Medline Hospital, Eskisehir, Turkey.
Interact Cardiovasc Thorac Surg. 2015 Jan;20(1):21-3. doi: 10.1093/icvts/ivu346. Epub 2014 Oct 17.
Venous thromboembolism (VTE) is a complex disease and an important preventable cause of morbidity and mortality today. Many genetic and acquired factors contribute to its aetiology. The aim of the present study is to investigate the incidence of inherited risk factors for thrombophilia in patients under 45 years of age who presented with VTE without having a major acquired risk factor.
Of 96 VTE patients who presented to our outpatient department between February 2012 and November 2013, 58 were considered eligible for the study. Blood samples taken for thrombophilia testing were investigated in a molecular genetics and diagnosis laboratory. These data were collected prospectively and analysed retrospectively.
The mean age of patients in our study was 39.12 ± 2.1 years. Of the 58 patients, 30 had factor V Leiden mutation (5 homozygous, 25 heterozygous), 16 had prothrombin gene mutation, 24 had methylenetetrahydrofolate reductase C677T mutation (5 homozygous, 19 heterozygous), 18 had protein C deficiency, 17 had protein S deficiency, 14 had antithrombin III deficiency and 13 had hyperhomocysteinaemia. We observed that at least one inherited risk factor was present in most of the patients with VTE (n = 45), a finding that was compatible with those of previous studies.
Inherited risk factors are common among patients who present with VTE but have no major acquired risk factors. We conclude that these patients should be further evaluated for evidence of molecular risk factors.
静脉血栓栓塞症（VTE）是一种复杂疾病，是当今发病率和死亡率的重要可预防原因。许多遗传和后天因素导致其病因。本研究的目的是调查45岁以下无主要后天危险因素而发生VTE的患者中遗传性血栓形成倾向危险因素的发生率。
2012年2月至2013年11月期间到我们门诊就诊的96例VTE患者中，58例被认为符合研究条件。在分子遗传学和诊断实验室对用于血栓形成倾向检测的血样进行研究。这些数据是前瞻性收集并进行回顾性分析的。
我们研究中患者的平均年龄为39.12±2.1岁。58例患者中，30例有因子V莱顿突变（5例纯合子，25例杂合子），16例有凝血酶原基因突变，24例有亚甲基四氢叶酸还原酶C677T突变（5例纯合子，19例杂合子），18例有蛋白C缺乏，17例有蛋白S缺乏，14例有抗凝血酶III缺乏，13例有高同型半胱氨酸血症。我们观察到大多数VTE患者（n = 45）存在至少一种遗传性危险因素，这一发现与先前研究结果一致。
遗传性危险因素在无主要后天危险因素的VTE患者中很常见。我们得出结论，应对这些患者进一步评估分子危险因素的证据。
