Otrock Zaher K, Taher Ali T, Shamseddeen Wael A, Mahfouz Rami A
Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Riad El Solh, P.O Box 11-0236, Beirut 1107 2020, Lebanon.
J Thromb Thrombolysis. 2008 Aug;26(1):41-3. doi: 10.1007/s11239-007-0093-x. Epub 2007 Sep 6.
Cerebral venous and sinus thrombosis (CVST) is a multifaceted disorder. The frequency of inherited and acquired thrombophilia among 16 CVST patients was evaluated. The mean age of the patients was 22.9 years. Five out of the 16 CVST patients (31.2%) showed the G1691A mutation of factor V. The frequency of the C677T methylenetetrahydrofolate reductase (MTHFR) genotype was 50% (8/16) in patients (2 of them were homozygous). Four of the patients (25%) had both factor V Leiden and MTHFR mutation. Three of the patients had positive antiphospholipid antibodies. At the time of CVST, 2 female patients were taking oral contraceptive pills. Four patients were known to have malignancies. Despite the limitation of the sample size, we identified an inherited coagulopathy at high rate in our patients. Combined inherited thrombophilia was also present in 25% of patients. This finding supports the impression of a multifactorial process leading to CVST in Lebanese patients.
脑静脉窦血栓形成（CVST）是一种多方面的疾病。我们评估了16例CVST患者中遗传性和获得性易栓症的发生率。患者的平均年龄为22.9岁。16例CVST患者中有5例（31.2%）显示因子V的G1691A突变。患者中亚甲基四氢叶酸还原酶（MTHFR）基因C677T基因型的频率为50%（8/16）（其中2例为纯合子）。4例患者（25%）同时存在因子V莱顿突变和MTHFR突变。3例患者抗磷脂抗体呈阳性。在发生CVST时，2例女性患者正在服用口服避孕药。已知4例患者患有恶性肿瘤。尽管样本量有限，但我们在患者中发现了高比例的遗传性凝血病。25%的患者还存在合并遗传性易栓症。这一发现支持了导致黎巴嫩患者发生CVST的多因素过程的观点。
