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一名患有蛋白S缺乏症和1型血管性血友病的年轻女性的急性冠状动脉综合征:一例混合性止血障碍病例

Acute Coronary Syndrome in a Young Woman With Protein S Deficiency and Von Willebrand Disease Type 1: A Case of Mixed Hemostatic Disorders.

作者信息

Zapata Arceo Sofía, Garma Solis Ignacio de Jesus, Ayuso-Diaz Victor M, Moreno-Enriquez Angelica

机构信息

Internal Medicine, "Elvia Carrillo Puerto" High Specialty Regional Hospital, Institute for Social Security and Services for State Workers (ISSSTE), Mérida, MEX.

General Practice, Research and Education Division, Medical Care and Research, Yucatan, MEX.

出版信息

Cureus. 2025 Jul 13;17(7):e87849. doi: 10.7759/cureus.87849. eCollection 2025 Jul.

DOI:10.7759/cureus.87849
PMID:40799883
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12342695/
Abstract

Acute myocardial infarction (AMI) in young adults without conventional cardiovascular risk factors is rare and is often associated with non-atherosclerotic causes, including hereditary thrombophilias. Although protein S deficiency is classically associated with venous thrombosis, it has increasingly been implicated in arterial events. The postpartum period is a state of physiological hypercoagulability, which can reveal underlying prothrombotic conditions. Here, we present a case of a 31-year-old woman who developed septoapical AMI one week following elective cesarean section. Coronary angiography revealed thrombosis of the left coronary trunk and anterior descending artery, with no evidence of atherosclerotic lesions. She underwent percutaneous intervention with multiple stents and commenced anticoagulation therapy with acenocoumarol following the identification of partial protein S deficiency (56%). During follow-up, she experienced spontaneous mucocutaneous bleeding, prompting further investigation. Prolonged activated partial thromboplastin time (aPTT) and reduced activity of factor VIII (20.2%), von Willebrand factor (23.2%), and von Willebrand factor antigen (31.3%), as well as platelet hypofunction on aggregometry, led to a diagnosis of type 1 von Willebrand disease being made. The anticoagulant regimen was switched to dabigatran. The bleeding disorder was likely unmasked by anticoagulation. The final diagnosis was established based on platelet hypofunction and coagulopathy findings, which also guided the therapeutic adjustment. The patient achieved a favorable clinical outcome, characterized by symptom resolution, an absence of new thrombotic or bleeding events, and partial biochemical recovery. This case highlights the importance of comprehensive hematological investigations in young patients presenting with atypical arterial thrombotic events.

摘要

在没有传统心血管危险因素的年轻成年人中,急性心肌梗死(AMI)较为罕见,且常与非动脉粥样硬化性病因相关,包括遗传性易栓症。虽然蛋白S缺乏症经典地与静脉血栓形成相关,但它越来越多地被认为与动脉事件有关。产后时期是一种生理性高凝状态,可揭示潜在的血栓前状态。在此,我们报告一例31岁女性,在择期剖宫产术后一周发生了心尖部间隔AMI。冠状动脉造影显示左冠状动脉主干和前降支血栓形成,无动脉粥样硬化病变证据。她接受了多个支架的经皮介入治疗,并在发现部分蛋白S缺乏(56%)后开始使用醋硝香豆素进行抗凝治疗。在随访期间,她出现了自发性黏膜皮肤出血,促使进一步检查。活化部分凝血活酶时间(aPTT)延长,以及因子VIII活性降低(20.2%)、血管性血友病因子(23.2%)和血管性血友病因子抗原(31.3%)降低,以及血小板聚集功能低下,导致诊断为1型血管性血友病。抗凝方案改为达比加群。出血性疾病可能是由抗凝治疗引发的。最终诊断基于血小板功能低下和凝血病的检查结果,这也指导了治疗调整。患者取得了良好的临床结局,表现为症状缓解、无新的血栓形成或出血事件,以及部分生化指标恢复。该病例强调了对出现非典型动脉血栓事件的年轻患者进行全面血液学检查的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/32b1/12342695/320ba7dca584/cureus-0017-00000087849-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/32b1/12342695/320ba7dca584/cureus-0017-00000087849-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/32b1/12342695/320ba7dca584/cureus-0017-00000087849-i01.jpg

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