Chatterjee Tathagata, Gupta Neha, Choudhry Ved Prakash, Behari Madhuri, Saxena Renu, Ashraf Mohammad Z
Department of Pathology, Army Hospital (R &R), Delhi, India.
Blood Coagul Fibrinolysis. 2013 Jun;24(4):449-53. doi: 10.1097/MBC.0b013e32835bfe21.
Stroke in the young is attributed to the prevalence of thrombophilia, however, reports explaining the cause mechanisms from Indian populations are largely not known. The information about the association of inherited thrombophilia and occurrence of stroke is still missing. Therefore, we describe here 52 cases of young ischemic stroke of which 22 cases were of recurrent stroke and 30 cases of first episode stroke along with an equal number of healthy controls. Imaging techniques (CT/MRI/Doppler studies) were used to identify the type and location of infarcts among various regions of the brain. All the patients and controls were screened for hypercoagulable state by employing Pro C global test. Those tested positive for the latter were evaluated for conventional thrombophilic factors, activity levels of protein C and protein S, antithrombin III levels, plasma homocysteine levels and presence of activated protein C resistance, lupus anticoagulant, methylenetetrahydrofolate reductase (MTHFR C677T) and prothrombin G20210A polymorphisms. Out of 52 cases there were 22 cases of recurrent stroke and 30 cases of first ischemic stroke. Infarcts were single in 39 out of 52 cases and multiple in 13 cases. Among the different regions of brain internal capsule infarcts were seen in 13 of 52 (25%) cases, and cerebellum, basal ganglion and midbrain infarcts were seen in five cases (9.6%) each and remaining infarcts were in other anatomical regions of the brain. Left middle cerebral artery territory was involved in 17 of 52 (32.7%) cases. The prevalence of individual thrombophilia among cases ranged from 28.8% (15/52) for protein S and 11.5% (6/52) for protein C deficiencies respectively. All cases of protein C were protein S deficient. Five cases of protein C deficiency patients were of 25 years and younger as compared with one case in the at least 25 years age group. Plasma homocysteine levels were elevated in three cases (5.7%) as compared with normal levels in controls. Homozygous MTHFR C677T was seen in three cases, whereas heterozygosity for the same was observed in five cases. Out of three homozygous cases for C677T MTHFR polymorphism, two of these patients had hyperhomocysteinemia. None of the five cases of heterozygous C677T MTHFR polymorphism had hyperhomocysteinemia. All patients were found to be negative for prothrombin G20210A mutation. The results of the present study suggest that protein S deficiency alone or protein S deficiency in combination with protein C deficiency as well as hyperhomocysteinemia are significantly associated with ischemic stroke in young Indians.
年轻人中风归因于血栓形成倾向的普遍存在，然而，来自印度人群的关于病因机制的报道在很大程度上尚不清楚。关于遗传性血栓形成倾向与中风发生之间关联的信息仍然缺失。因此，我们在此描述52例年轻缺血性中风病例，其中22例为复发性中风，30例为首次发作中风，同时设有同等数量的健康对照。采用影像学技术（CT/MRI/多普勒检查）来确定脑内各个区域梗死灶的类型和位置。通过使用Pro C全局检测对所有患者和对照进行高凝状态筛查。对检测呈阳性者评估其传统血栓形成倾向因素、蛋白C和蛋白S的活性水平、抗凝血酶III水平、血浆同型半胱氨酸水平以及活化蛋白C抵抗、狼疮抗凝物、亚甲基四氢叶酸还原酶（MTHFR C677T）和凝血酶原G20210A基因多态性的存在情况。52例病例中，有22例复发性中风和30例首次缺血性中风。52例中有39例梗死灶为单发，13例为多发。在脑内不同区域中，52例中有13例（25%）出现内囊梗死，小脑、基底神经节和中脑梗死各有5例（9.6%），其余梗死灶位于脑的其他解剖区域。52例中有17例（32.7%）累及左侧大脑中动脉供血区。病例中个体血栓形成倾向的患病率分别为蛋白S缺乏28.8%（15/52）和蛋白C缺乏11.5%（6/52）。所有蛋白C缺乏的病例均伴有蛋白S缺乏。蛋白C缺乏的5例患者年龄在25岁及以下，而至少25岁年龄组中只有1例。与对照组的正常水平相比，3例（5.7%）患者的血浆同型半胱氨酸水平升高。3例出现MTHFR C677T纯合子，而5例为该基因杂合子。在3例C677T MTHFR多态性纯合子病例中，有2例患者存在高同型半胱氨酸血症。5例C677T MTHFR多态性杂合子病例均无高同型半胱氨酸血症。所有患者的凝血酶原G20210A突变检测均为阴性。本研究结果表明，单独的蛋白S缺乏或蛋白S缺乏合并蛋白C缺乏以及高同型半胱氨酸血症与印度年轻人群的缺血性中风显著相关。
