Department of Hematology, Kayseri Education and Research Hospital, Kayseri, Turkey.
Department of Hematology, Oncology Education and Research Hospital, Dizgi Sok. 9/6, 06120, Basinevleri, Ankara, Turkey.
Int J Hematol. 2009 Dec;90(5):583-590. doi: 10.1007/s12185-009-0447-6. Epub 2009 Nov 25.
The increased risk for thrombosis is known as hypercoagulability or thrombophilia. Here, we investigated risk factors for thrombophilia which were screened in young adult patients presenting with thrombotic events or with recurrent abortions with unknown etiology. A total of 115 patients aged between 16 and 50 years who were found to harbor thrombophilia were retrospectively evaluated. The laboratory investigations performed for the assessment of thrombophilia included protein C, protein S, antithrombin III deficiencies, activated protein C resistance, factor V Leiden (FVL), prothrombin 20210A (PT 20210) and methylenetetrahydrofolate reductase (MTHFR) gene mutations, factor VIII elevation, lupus anticoagulant and antiphospholipid antibodies (APA). In 66% of the cases a single thrombophilic defect was identified while some of the patients had combined thrombophilic defects. The most common thrombophilic defect was mutation in the MTHFR gene, and was followed by FVL mutation, the presence of APA and PT 20210 gene mutation, respectively. The patients were divided into two different age groups, 16-35 and 36-50 years, and arterial thrombosis was more common in the older age group. Our results indicated that some important thrombophilic defects such as gene mutations may appear in young adult patients presenting with thrombotic events.
已知血栓形成风险增加被称为高凝状态或血栓形成倾向。在这里,我们研究了在出现血栓形成事件或原因不明的复发性流产的年轻成年患者中筛查出的血栓形成倾向的危险因素。总共回顾性评估了 115 名年龄在 16 至 50 岁之间且被发现患有血栓形成倾向的患者。为评估血栓形成倾向而进行的实验室检查包括蛋白 C、蛋白 S、抗凝血酶 III 缺乏症、活化蛋白 C 抵抗、因子 V 莱顿突变(FVL)、凝血酶原 20210A(PT 20210)和亚甲基四氢叶酸还原酶(MTHFR)基因突变、因子 VIII 升高、狼疮抗凝物和抗磷脂抗体(APA)。在 66%的病例中,确定了单一的血栓形成倾向缺陷,而一些患者则存在联合的血栓形成倾向缺陷。最常见的血栓形成倾向缺陷是 MTHFR 基因突变,其次是 FVL 基因突变、APA 存在和 PT 20210 基因突变。患者被分为两个不同的年龄组,16-35 岁和 36-50 岁,动脉血栓形成在年龄较大的组中更为常见。我们的结果表明,一些重要的血栓形成倾向缺陷,如基因突变,可能出现在出现血栓形成事件的年轻成年患者中。