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依诺肝素治疗脑静脉窦血栓形成合并凝血酶原G20210A突变患者失败:病例报告

Enoxaparin Failure in Patient With Cerebral Venous Sinus Thrombosis and Prothrombin G20210A Mutation: Case Report.

作者信息

Polavarapu Adithya, Bhushan Anita, Duarte-Celada Walter, Windisch Thomas, Bhushan Bharat

机构信息

Bhaskar Medical College (BMC), Hyderabad, Telangana, India.

GIM Foundation, Little Rock, AR.

出版信息

Neurologist. 2025 May 1;30(3):175-181. doi: 10.1097/NRL.0000000000000591.

Abstract

INTRODUCTION

Cerebral venous sinus thrombosis (CVST) is a rare, serious, and complex cerebrovascular disease. The prothrombin G20210A mutation is the second most common inherited thrombophilia and is considered to be one of the etiologies of CVST. The optimal heparinoid medication for treatment remains a topic of debate.

CASE REPORT

This case report describes a young woman with CVST who did not respond to low-molecular-weight heparin (LMWH). The patient was initially treated with LMWH; however, her symptoms and clot burden in the sagittal sinus worsened, and coagulation studies showed no evidence of therapeutic anticoagulation despite good compliance. Unfractionated heparin was then initiated, and the patient's symptoms improved dramatically within 24 hours, along with the recanalization of the cerebral venous sinuses. Genetic testing revealed a heterozygous mutation in the prothrombin gene (G20210A). This mutation is a known risk factor for CVST. However, it is unclear why the patient did not respond to LMWH but responded appropriately to unfractionated heparin.

CONCLUSION

This case report highlights the potential for LMWH resistance in patients with CVST and prothrombin gene mutations. These findings also emphasize the importance of close monitoring of coagulation parameters and clinical response in patients with CVST receiving LMWH.

摘要

引言

脑静脉窦血栓形成(CVST)是一种罕见、严重且复杂的脑血管疾病。凝血酶原G20210A突变是第二常见的遗传性易栓症,被认为是CVST的病因之一。治疗的最佳类肝素药物仍是一个有争议的话题。

病例报告

本病例报告描述了一名患有CVST的年轻女性,她对低分子量肝素(LMWH)无反应。患者最初接受LMWH治疗;然而,她的症状以及矢状窦内的血栓负荷加重,尽管依从性良好,但凝血研究未显示有治疗性抗凝的证据。随后开始使用普通肝素,患者的症状在24小时内显著改善,同时脑静脉窦再通。基因检测显示凝血酶原基因存在杂合突变(G20210A)。这种突变是CVST的已知危险因素。然而,尚不清楚为何患者对LMWH无反应,但对普通肝素反应良好。

结论

本病例报告强调了CVST和凝血酶原基因突变患者中存在LMWH抵抗的可能性。这些发现还强调了在接受LMWH治疗的CVST患者中密切监测凝血参数和临床反应的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9653/12045334/cac2d6d34a8a/nrl-30-175-g001.jpg

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