Department of Cardiology, Institute of Emergency for Cardiovascular Diseases Prof Dr CC Iliescu, Bucharest, Romania.
Clin Appl Thromb Hemost. 2011 Feb;17(1):108-13. doi: 10.1177/1076029609357740. Epub 2010 May 11.
The diagnosis and management of complex and multiple inherited thrombophilias is still a challenge for the clinicians involved in this field, clinical events being the result of the interaction between genes, environmental or other acquired factors, and age. Moreover, various clinical manifestations as regards severity or type of event (venous or arterial thrombotic event, obstetrical complications) are cited in these patients. We present the case of a 20-year-old woman, with a 2-month history of third-generation contraceptive use and with recently diagnosed hypercholesterolemia, who presented ischemic events in 2 arterial territories: acute left lower limb ischemia and silent myocardial infarction. Screening tests for thrombophilia, including genetic testing, showed moderate hyperhomocysteinemia and 2 inherited thrombophilic defects. Invasive investigation of the coronary arteries showed the presence of advanced atherosclerotic disease. Management of this complex thrombophilia includes lifetime oral anticoagulation as well as a homocysteine-lowering strategy comprising lifestyle modification and group B (folic acid, B(6), B(12)) vitamin supplementing.
对于涉及该领域的临床医生来说，复杂和多种遗传性血栓形成倾向的诊断和管理仍然是一个挑战，临床事件是基因、环境或其他获得性因素以及年龄相互作用的结果。此外，这些患者还存在各种临床表现，包括严重程度或事件类型（静脉或动脉血栓形成事件、产科并发症）。我们介绍了一位 20 岁的女性患者，她使用第三代避孕药已有 2 个月，最近被诊断为高胆固醇血症，出现了 2 个动脉区域的缺血性事件：急性左下肢缺血和无症状性心肌梗死。血栓形成倾向的筛查试验，包括基因检测，显示中度高同型半胱氨酸血症和 2 种遗传性血栓形成缺陷。冠状动脉的侵入性检查显示存在晚期动脉粥样硬化性疾病。这种复杂的血栓形成倾向的治疗包括终身口服抗凝治疗，以及降低同型半胱氨酸的策略，包括生活方式的改变和 B 组（叶酸、B(6)、B(12)）维生素补充。
