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中华脑血管病杂志(电子版)

中华脑血管病杂志(电子版) ›› 2024, Vol. 18 ›› Issue (04) : 338 -344. doi: 10.11817/j.issn.1673-9248.2024.04.007

临床病例研究

脑淀粉样血管病合并易栓状态的临床治疗决策
周雅萍1, 洪月慧1, 苏宁1, 刘暴2, 朱铁楠3, 倪俊1,†()   
  1. 1. 100730　中国医学科学院　北京协和医学院　北京协和医院神经科　疑难重症及罕见病国家重点实验室
    2. 100730　中国医学科学院　北京协和医学院　北京协和医院血管外科
    3. 100730　中国医学科学院　北京协和医学院　北京协和医院血液科
  • 收稿日期:2024-06-04 出版日期:2024-08-01
  • 通信作者: 倪俊
  • 基金资助:
    中央高水平医院临床科研专项(2022-PUMCH-D-007)

Clinical treatment strategies for cerebral amyloid angiopathy with thrombotic conditions

Yaping Zhou1, Yuehui Hong1, Ning Su1, Bao Liu2, Tienan Zhu3, Jun Ni1,†()   

  1. 1. Department of Neurology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China
    2. Department of Vascular Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China
    3. Department of Hematology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China
  • Received:2024-06-04 Published:2024-08-01
  • Corresponding author: Jun Ni
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引用本文：

周雅萍, 洪月慧, 苏宁, 刘暴, 朱铁楠, 倪俊. 脑淀粉样血管病合并易栓状态的临床治疗决策[J]. 中华脑血管病杂志(电子版), 2024, 18(04): 338-344.

Yaping Zhou, Yuehui Hong, Ning Su, Bao Liu, Tienan Zhu, Jun Ni. Clinical treatment strategies for cerebral amyloid angiopathy with thrombotic conditions[J]. Chinese Journal of Cerebrovascular Diseases(Electronic Edition), 2024, 18(04): 338-344.

目的

回顾并报道1例散发性脑淀粉样血管病（CAA）合并JAK2基因突变致原发性血小板增多症（ET）及下肢深静脉血栓形成（DVT）患者的临床诊治过程，为此类患者临床抗栓决策提供参考。

方法

总结2024年2月就诊于北京协和医院神经科的1例CAA合并JAK2基因突变致ET及下肢DVT患者的临床资料及多学科协助的诊疗过程，同时复习国内外有关CAA合并ET的相关病例报道，总结此类患者的临床特点、治疗矛盾、抗栓决策及预后。

结果

本例患者为74岁女性，临床主要表现为慢性进行性认知功能下降，头磁共振成像（MRI）提示多发局限脑叶微出血、皮层表浅含铁血黄素沉积、多发脑白质高信号及腔隙等，排除其他病因，根据Boston 2.0诊断标准，符合很可能的CAA（Probable CAA）诊断，自发性脑出血风险较高。同时，患者合并JAK2基因突变相关ET及进展性DVT，具有明确的抗凝指征，治疗存在矛盾。经神经科、血液科及血管外科多学科讨论评估本患者出血和血栓风险，权衡利弊，给予羟基脲降血小板治疗的基础上，加用预防剂量利伐沙班（10 mg/d）口服治疗，同时积极控制心血管危险因素。出院3个月随访患者下肢DVT好转，且未发生出血，提示该方案安全有效。复习文献，仅国外报道1例CAA合并ET病例，该例患者出血风险高于血栓风险，治疗以预防出血为主，停用抗栓治疗。

结论

当CAA合并高凝/易栓性疾病时，需权衡出血及血栓风险，进行个体化抗栓决策，同时密切随诊，动态评估、调整治疗方案。对于CAA合并ET及DVT的患者，若近期内血栓风险较高而出血风险相对较低，可在降低血小板数量及控制心血管危险因素的基础上使用预防量抗凝治疗，药物选择以新型口服抗凝药为首选，动态评估药物疗效和安全性并随时调整剂量。

关键词: 脑淀粉样血管病, 原发性血小板增多症, 深静脉血栓, 抗凝治疗, 出血风险
Objective

To review and report a case of sporadic cerebral amyloid angiopathy (CAA) with essential thrombocythemia (ET) with a JAK2 gene mutation and deep venous thrombosis (DVT), in order to provide clinical insights and discuss the treatment options.

Methods

The clinical data of a CAA patient with ET, caused by JAK2 gene mutation, and lower extremity DVT, admitted to the Department of Neurology of Peking Union Medical College Hospital in February 2024, were summarized and the diagnosis and treatment process with multidisciplinary collaboration were analyzed. We also reviewed previous reports about CAA complicated with ET and summarized the clinical characteristics, treatment conflicts, antithrombotic therapy decisions, and prognosis of these patients.

Results

The patient was a 74-year-old female, who complained of cognitive decline for 1 year. Magnetic resonance imaging revealed multiple lobar cerebral microbleeds, cortical hemosiderin deposition, multiple white matter hyperintensities, and lacunes. According to the Boston 2.0 diagnostic criteria, the patient met the diagnostic criteria for probable CAA and was at high risk of spontaneous cerebral hemorrhage. Meanwhile, the patient was complicated with ET and DVT, which had indications for anticoagulant therapy. There was a dilemma in the therapy decision. After multidisciplinary discussion, a prophylactic dose of Rivaroxaban (10 mg/d) was given on the basis of a cytoreductive agent in combination with Hydroxyurea, and the risk factors of vascular disease were strictly controlled. The DVT was improved without cerebral microbleeds increasing in three-month follow-up, which may suggest the safety and effectiveness of our treatment. Previous research reported only one case of CAA with ET, in which the risk of bleeding was higher than the risk of thrombosis, antithrombotic therapy was discontinued to prevent bleeding.

Conclusion

In patients with CAA complicated by thrombotic diseases, it is necessary to weigh the risks of bleeding and thrombosis and make individualized decisions. For CAA patients with ET and DVT, if the risk of thrombosis outweighs the risk of bleeding, a prophylactic dose of anticoagulant therapy can be used on the basis of cytoreductive agent and controlling cardiovascular risk factors. A non-vitamin K antagonist oral anticoagulant is suggested. Close follow-up, dynamically evaluating, and adjusting the treatment are essential.

Key words: Cerebral amyloid angiopathy, Essential thrombocythemia, Deep vein thrombosis, Anticoagulation, Bleeding risk
图1 患者2024年2月23日头颅磁共振成像表现。示多发血管周围间隙、腔隙灶、脑白质病变（图a、b、c），脑叶多发微出血灶（图d、e），皮层表面含铁血黄素沉积（图e），颅内动脉多发轻度狭窄（图f）。图a为T1加权成像；图b为T2加权成像；图c为液体抑制反转恢复序列；图d、e为磁敏感加权成像；图f为磁共振血管成像
图2 患者2024年3月25日头颅磁共振成像表现，较2024年2月23日无明显变化。示多发血管周围间隙、腔隙灶、脑白质病变（图a、b、c），脑叶多发微出血灶（图d、e），皮层表面含铁血黄素沉积（图e）。图a为T1加权成像；图b为T2加权成像；图c为液体抑制反转恢复序列；图d、e为磁敏感加权成像
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