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不明原因的多部位血栓形成:高凝患者中检测凝血因子V莱顿突变的分步策略

Unexplained Multi-Site Thrombosis: A Step-by-Step Strategy for Factor V Leiden Detection in a Hypercoagulable Patient.

作者信息

Shahabi Raberi Venus, Kahourian Ozra, Faramarzzadeh Reza, Parizad Razieh, McConnell Oliver, Rostamzadeh Alireza

机构信息

Department of Cardiology, Seyedoshohda Hospital, School of Medicine, Urmia University of Medical Sciences, Urmia, Iran.

Cardiovascular Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.

出版信息

J Tehran Heart Cent. 2024 Oct;19(4):295-301. doi: 10.18502/jthc.v19i4.17618.

DOI:10.18502/jthc.v19i4.17618
PMID:40454350
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12126192/
Abstract

Thrombotic manifestations involve the development of blood clots within blood vessels. These conditions can occur unexpectedly in different areas and are often linked to life-threatening situations, presenting challenges for both diagnosis and treatment. We present a case of multi-site thrombosis in a patient with a confirmed hypercoagulable state, resulting from a positive factor V Leiden mutation. The patient's medical history included hypertension, chronic obstructive pulmonary disease, previous thrombotic events, and changes in anticoagulant therapy. This case highlights the challenges associated with multisystem thrombosis and underscores the necessity of employing various diagnostic techniques, such as echocardiography, computed coronary angiography, and Doppler ultrasonography. In this instance, the patient presented with a history of unprovoked lower limb deep vein thrombosis and multiple arterial thromboses. The patient's treatment regimen comprised anticoagulants, antiplatelet drugs, and vasodilators. While a reduction in thrombus size was noted, complete revascularization could not be attained. Effective diagnosis and treatment of venous and arterial thrombosis often require multimodal imaging. Selective blood test screening can be beneficial in diagnosing or detecting inherited or acquired abnormalities linked to thrombosis development.

摘要

血栓形成表现涉及血管内血栓的形成。这些情况可能在不同部位意外发生,并且常常与危及生命的情况相关联,给诊断和治疗都带来挑战。我们报告一例确诊为高凝状态的患者发生多部位血栓形成的病例,该患者因凝血因子V莱顿突变呈阳性。患者的病史包括高血压、慢性阻塞性肺疾病、既往血栓形成事件以及抗凝治疗的变化。该病例突出了与多系统血栓形成相关的挑战,并强调了采用多种诊断技术的必要性,如超声心动图、计算机断层冠状动脉造影和多普勒超声检查。在这个病例中,患者有不明原因的下肢深静脉血栓形成和多处动脉血栓形成病史。患者的治疗方案包括抗凝剂、抗血小板药物和血管扩张剂。虽然观察到血栓大小有所减小,但未能实现完全血管再通。静脉和动脉血栓形成的有效诊断和治疗通常需要多模态成像。选择性血液检测筛查有助于诊断或检测与血栓形成相关的遗传性或获得性异常。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95d6/12126192/e1eb66ad5125/JTHC-19-295-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95d6/12126192/7bfdbc0b2f39/JTHC-19-295-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95d6/12126192/d48b461dc730/JTHC-19-295-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95d6/12126192/8121ce770390/JTHC-19-295-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95d6/12126192/3b061e211512/JTHC-19-295-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95d6/12126192/d4bd4c7a523f/JTHC-19-295-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95d6/12126192/e1eb66ad5125/JTHC-19-295-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95d6/12126192/7bfdbc0b2f39/JTHC-19-295-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95d6/12126192/d48b461dc730/JTHC-19-295-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95d6/12126192/8121ce770390/JTHC-19-295-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95d6/12126192/3b061e211512/JTHC-19-295-g004.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/95d6/12126192/e1eb66ad5125/JTHC-19-295-g006.jpg

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本文引用的文献

1
Acute on Chronic Thromboembolic Pulmonary Hypertension: Case Series and Review of Management.慢性血栓栓塞性肺动脉高压急性加重:病例系列及治疗综述
J Clin Med. 2022 Jul 21;11(14):4224. doi: 10.3390/jcm11144224.
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Thrombotic events and mortality risk in patients with newly diagnosed polycythemia vera or essential thrombocythemia.新诊断真性红细胞增多症或原发性血小板增多症患者的血栓形成事件及死亡风险
Leuk Res. 2022 Apr;115:106809. doi: 10.1016/j.leukres.2022.106809. Epub 2022 Feb 16.
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Therapeutic strategies for thrombosis: new targets and approaches.
血栓治疗策略:新靶点和新方法。
Nat Rev Drug Discov. 2020 May;19(5):333-352. doi: 10.1038/s41573-020-0061-0. Epub 2020 Mar 4.
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Venous thrombosis.静脉血栓形成。
Nat Rev Dis Primers. 2015 May 7;1:15006. doi: 10.1038/nrdp.2015.6.
5
Global Burden of Thrombosis: Epidemiologic Aspects.全球血栓形成负担:流行病学方面。
Circ Res. 2016 Apr 29;118(9):1340-7. doi: 10.1161/CIRCRESAHA.115.306841.
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Thrombosis: a major contributor to global disease burden.血栓形成:全球疾病负担的主要促成因素。
Arterioscler Thromb Vasc Biol. 2014 Nov;34(11):2363-71. doi: 10.1161/ATVBAHA.114.304488.
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Cerebral venous thrombosis: clinical features, risk factors, and long-term outcome in a Tunisian cohort.脑静脉血栓形成:突尼斯队列中的临床特征、危险因素及长期预后
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Diagnosis and treatment of pulmonary embolism: a multidisciplinary approach.肺栓塞的诊断与治疗:多学科方法
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A unique presentation of four thrombotic events at a time.一次出现四个血栓形成事件的独特表现。
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Competing risk of atherosclerotic risk factors for arterial and venous thrombosis in a general population: the Tromso study.一般人群中动脉和静脉血栓形成的动脉粥样硬化危险因素的竞争风险:特罗姆瑟研究。
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