Prabhudesai Aniket, Shetty Shrimati, Ghosh Kanjaksha, Kulkarni Bipin
National Institute of Immunohaematology (ICMR), Department of Thrombosis and Haemostasis, KEM Hospital, Parel, Mumbai, India.
Surat Raktadan Kendra & Research Centre, Regional Blood Transfusion Centre, Surat, Gujarat, India.
Blood Cells Mol Dis. 2017 Jun;65:51-55. doi: 10.1016/j.bcmd.2017.05.007. Epub 2017 May 13.
Cerebral venous thrombosis (CVT) is an uncommon neurological disease with high morbidity and mortality. Even after extensive thrombophilia screening, majority of the thrombosis cases remain with unknown etiology. Hypofibrinolysis due to acquired or congenital deficiencies or abnormalities in factors in the fibrinolytic cascade is a known cause of thrombosis at any site. In the present study 104 cases of radiologically confirmed CVT cases were investigated for the conventional thrombophilia along with factors in the fibrinolytic cascade to find a possible etiology for the clinical manifestation. Conventional thrombophilia markers which included PC, PS, AT and FVL mutation were detected in 16.3% of the patients. Approximately 19% cases had grossly elevated plasma PAI-1 levels. PAI-1 4G/4G genotype was found to be strongly associated with high PAI-1 levels. 2.9% cases had reduced tPA levels, 1.9% had plasminogen deficiency and 1.9% cases had increased alpha-2-antiplasmin levels. Along with conventional thrombophilia, dysfunctional fibrinolysis is found to be strongly associated with CVT. Understanding the role of risk factors is important for appropriate treatment of this serious disorder.
脑静脉血栓形成（CVT）是一种发病率和死亡率都很高的罕见神经系统疾病。即使经过广泛的血栓形成倾向筛查，大多数血栓形成病例的病因仍然不明。由于纤溶级联反应中获得性或先天性因子缺乏或异常导致的纤溶功能减退是任何部位血栓形成的已知原因。在本研究中，对104例经放射学确诊的CVT病例进行了传统血栓形成倾向以及纤溶级联反应相关因子的研究，以寻找临床表现可能的病因。在16.3%的患者中检测到包括蛋白C（PC）、蛋白S（PS）、抗凝血酶（AT）和凝血因子V Leiden（FVL）突变在内的传统血栓形成倾向标志物。约19%的病例血浆纤溶酶原激活物抑制物-1（PAI-1）水平显著升高。发现PAI-1 4G/4G基因型与高PAI-1水平密切相关。2.9%的病例组织型纤溶酶原激活物（tPA）水平降低，1.9%的病例纤溶酶原缺乏，1.9%的病例α2-抗纤溶酶水平升高。除了传统的血栓形成倾向外，纤溶功能障碍也被发现与CVT密切相关。了解危险因素的作用对于恰当治疗这种严重疾病很重要。
