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JAK2 V617F阳性原发性血小板增多症合并症状性颈内动脉狭窄患者的颈动脉支架置入术:病例报告

Carotid artery stenting in JAK2 V617F-positive essential thrombocythemia with symptomatic internal carotid artery stenosis: a case report.

作者信息

Du Minghui, Hu Yinbao, Liang Zhigang

机构信息

Department of Neurology, Yuhuangding Hospital Affiliated to Qingdao University, Yantai, China.

The Second Clinical Medical College of Binzhou Medical University, Yantai, China.

出版信息

Front Cardiovasc Med. 2025 Aug 25;12:1658456. doi: 10.3389/fcvm.2025.1658456. eCollection 2025.

Abstract

Essential thrombocythemia (ET) is a myeloproliferative neoplasm (MPN) characterized by abnormal megakaryocyte proliferation and a markedly elevated platelet count, which predisposes patients to thrombotic or hemorrhagic events. Approximately 50%-60% of ET patients harbor a JAK2 V617F mutation. This mutation drives constitutive JAK kinase activation, promoting megakaryocyte proliferation and platelet production, while potentially activating inflammatory pathways and damaging vascular endothelium. We report a case of a JAK2 V617F-positive ET patient (sporadic presentation) who successfully underwent carotid artery stenting (CAS) for symptomatic internal carotid artery (ICA) stenosis. A 66-year-old male with known JAK2 V617F-positive ET presented with transient slurred speech and right-sided facial droop with mouth deviation. Magnetic resonance imaging/magnetic resonance angiography (MRI/MRA) revealed an acute cerebral infarction in the right basal ganglia and corona radiata, along with right ICA stenosis. Aggressive perioperative platelet and inflammation control, employing hydroxyurea, aspirin, and ticagrelor, was instrumental in mitigating the heightened thrombosis risk associated with the JAK2 V617F mutation. This case underscores that ET patients with the JAK2 V617F mutation face a substantial risk of thrombotic recurrence. It highlights the critical importance of rigorous preoperative platelet control, personalized antiplatelet therapy guided by pharmacogenomic principles, and multidisciplinary management in high-risk ET patients undergoing CAS.

摘要

原发性血小板增多症(ET)是一种骨髓增殖性肿瘤(MPN),其特征为巨核细胞异常增殖和血小板计数显著升高,这使患者易发生血栓形成或出血事件。大约50%-60%的ET患者携带JAK2 V617F突变。该突变导致JAK激酶持续激活,促进巨核细胞增殖和血小板生成,同时可能激活炎症通路并损害血管内皮。我们报告一例JAK2 V617F阳性ET患者(散发性表现),其因有症状的颈内动脉(ICA)狭窄成功接受了颈动脉支架置入术(CAS)。一名已知JAK2 V617F阳性ET的66岁男性出现短暂言语不清、右侧面部下垂伴口角歪斜。磁共振成像/磁共振血管造影(MRI/MRA)显示右侧基底节和放射冠急性脑梗死,同时伴有右侧ICA狭窄。使用羟基脲、阿司匹林和替格瑞洛进行积极的围手术期血小板和炎症控制,有助于降低与JAK2 V617F突变相关的血栓形成风险增加。该病例强调携带JAK2 V617F突变的ET患者面临血栓复发的重大风险。它突出了在接受CAS的高危ET患者中,严格的术前血小板控制、基于药物基因组学原则的个性化抗血小板治疗以及多学科管理的至关重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/11b1/12414967/ee502b87ec67/fcvm-12-1658456-g001.jpg

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