JAK2V617F突变性原发性血小板增多症并缺血性卒中10例临床特征分析

Clinical characteristics analysis of 10 paitents with JAK2 V617F-positive essential thrombocythemia complicated with ischaemic stroke

目的分析JAK2V617F突变性原发性血小板增多症(ET)并缺血性卒中的临床特征。方法回顾性分析2013年7月至2021年5月福建省立医院收治的7例及武平县医院收治的3例JAK2V617F突变性ET合并缺血性卒中患者的临床资料,分析患者临床特征(临床表现、实验室检测、骨髓细胞学)、影像学及治疗转归情况。结果10例JAK2V617F突变性ET合并缺血性卒中患者中,多发性脑梗死7例,单发性脑梗死2例,短暂性脑缺血发作1例。MRI显示3例患者病灶存在出血转化。9例脑梗死患者行血管评估,7例存在大动脉中重度狭窄或者闭塞。1例超急性期就诊者给予阿替普酶静脉溶栓后症状好转。二级预防:6例使用抗血小板、联合骨髓增生抑制剂,病情改善;3例起初仅用抗血小板治疗,病情反复,加用羟基脲治疗后2例病情改善。结论JAK2V617F突变性ET常引起大动脉粥样硬化狭窄性、多发性脑梗死且病灶较易出血,在抗血小板的基础上加用骨髓增生抑制剂可能有利于预防病情复发。

Objective To analyze the clinical characteristics of JAK2 V617F-positive essential thrombocythemia(ET)complicated with isch-aemic stroke.Methods The clinical data of 7 patients treated in Fujian Provincial Hospital and 3 patients treated in Wuping County Hospital from July 2013 to May 2021 whose JAK2 V617F-positive ET complicated with ischemic stroke were retrospectively analyzed,The clinical characteristics(clinical manifestations,laboratory tests,bone marrow cytology),imaging,treatment and outcome of the patients were analyzed.Results Among 10 patients with JAK2V617F-positive ET complicated with ischemic stroke,7 cases had multiple cerebral infarction,2 cases had single cerebral infarc-tion and 1 cases had transient ischemic attack.MRI showed hemorrhagic transformation in the lesion in 3 patients.Vascular evaluation was per-formed in 9 patients with cerebral infarction,and 7 patients had moderate to severe stenosis or occlusion of large arteries.The symptoms of 1 patient in hyperacute stage improved after intravenous thrombolysis with alteplase.Secondary prevention,6 cases were treated with antiplatelet and com-bined with myeloproliferative inhibitor,and the condition was improved;3 cases were treated with antiplatelet therapy at first,but the condition was repeated,2 cases were improved after adding hydroxyurea treatment.Conclusion JAK2 V617F-positive ET often causes atherosclerotic stenosis,multiple cerebral infarction and easy bleeding in the lesion,the addition of antiplatelet and myeloproliferative inhibitors may be beneficial to prevent the recurrence of the disease.