Regional Reference Centre for Coagulation Disorders, Department Of Clinical and Experimental Medicine, Federico II University Hospital, Naples, Italy.
Blood Transfus. 2014 Jan;12 Suppl 1(Suppl 1):s337-42. doi: 10.2450/2013.0196-12. Epub 2013 Feb 6.
The prevalence of thrombophilic abnormalities in patients with cerebral vein thrombosis has been reported to be similar to that in patients with deep vein thrombosis of the lower limb. The role of gender-specific risk factors (pregnancy, oral contraceptives) is well established, whereas that of other acquired risk conditions is debated.
We screened 56 patients with cerebral vein thrombosis and 184 age- and sex-matched apparently healthy controls for prothrombin (factor II, FII) G20210A and factor V Leiden polymorphisms; protein S, protein C, and antithrombin deficiency; anticardiolipin antibodies; hyperhomocysteinaemia and other putative risk factors.
The G20210A polymorphism was found in 29.1% of patients and in 5.7% of controls (odds ratio [OR] 7.1; P<0.0001; adjusted OR 12.67, P<0.0001). Frequencies of factor V Leiden and hyperhomocysteinaemia were not significantly different in patients and controls, nor were the other thrombophilic tests and some established cardiovascular risk factors, such as smoking, obesity or overweight and arterial hypertension. Conversely, 53.7% of the women who developed cerebral vein thrombosis did so while assuming oral contraceptives (OR 6.12; P<0.0001), with a further increase of risk in FII G20210A carriers (OR 48.533). Some associated diseases (onco-haematological disorders and infections) also had a significant role. Over a median 7-year follow-up, irrespective of the duration of antithrombotic treatment, 9/56 (16%) patients had further episodes of venous/arterial thrombosis. No significant risk factor for recurrent thrombosis was identified.
In spite of the limitations of the sample size, our data confirm the role of FII G20210A mutation in this setting and its interactions with acquired risk factors such as oral contraceptives, also highlighting the risk of recurrent thrombosis in cerebral vein thrombosis patients.
已报道脑静脉血栓形成患者的血栓形成异常患病率与下肢深静脉血栓形成患者相似。性别特异性危险因素（妊娠、口服避孕药）的作用已得到充分证实，而其他获得性危险因素的作用仍存在争议。
我们筛查了 56 例脑静脉血栓形成患者和 184 例年龄和性别匹配的貌似健康对照者，以检测凝血酶原（因子 II，FII）G20210A 和因子 V 莱顿突变；蛋白 S、蛋白 C 和抗凝血酶缺乏；抗心磷脂抗体；高同型半胱氨酸血症和其他潜在的危险因素。
患者中发现 G20210A 突变 29.1%，对照组中为 5.7%（比值比 [OR] 7.1；P<0.0001；校正 OR 12.67，P<0.0001）。患者和对照组之间因子 V 莱顿和高同型半胱氨酸血症的频率无显著差异，其他血栓形成试验和一些已确立的心血管危险因素（如吸烟、肥胖或超重和动脉高血压）也无差异。相反，53.7%发生脑静脉血栓形成的女性在服用口服避孕药时发生（OR 6.12；P<0.0001），FII G20210A 携带者的风险进一步增加（OR 48.533）。一些相关疾病（肿瘤血液病和感染）也有重要作用。在中位数为 7 年的随访中，无论抗血栓治疗的持续时间如何，56 例患者中有 9 例（16%）发生了静脉/动脉血栓形成的进一步发作。未确定复发性血栓形成的显著危险因素。
尽管样本量有限，但我们的数据证实了 FII G20210A 突变在此环境中的作用及其与口服避孕药等获得性危险因素的相互作用，同时也强调了脑静脉血栓形成患者发生复发性血栓形成的风险。
