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遗传性蛋白S缺乏症伴广泛股动脉血栓形成。

Hereditary Protein S Deficiency With an Extensive Femoral Artery Thrombosis.

作者信息

Mohd Noor Noor Haslina, Che Anuar Nurul Anis, Saidin Nur Ilyia Syazwani, Iberahim Salfarina, Abdullah Abdul Hanan

机构信息

Department of Hematology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, MYS.

Department of Internal Medicine, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, MYS.

出版信息

Cureus. 2023 Dec 30;15(12):e51355. doi: 10.7759/cureus.51355. eCollection 2023 Dec.

DOI:10.7759/cureus.51355
PMID:38292964
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10825390/
Abstract

Protein S (PS) deficiency is widely recognized for its connection to venous thromboembolism risk. However, the relation between PS deficiency and arterial thrombotic events (ATEs) remains uncertain. Here, we report a patient who experienced an ATE with a family history of PS deficiency. We highlight an attention to the issues related to the management of arterial thrombotic events and discuss the potential use of antiplatelet therapy as a treatment option for a specific group of patients diagnosed with PS deficiency.

摘要

蛋白S（PS）缺乏因其与静脉血栓栓塞风险的关联而被广泛认知。然而，PS缺乏与动脉血栓形成事件（ATEs）之间的关系仍不明确。在此，我们报告一名有PS缺乏家族史且发生了ATE的患者。我们强调关注与动脉血栓形成事件管理相关的问题，并讨论抗血小板治疗作为诊断为PS缺乏的特定患者群体的一种治疗选择的潜在用途。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b953/10825390/d83d3602768e/cureus-0015-00000051355-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b953/10825390/8ea4d7b22c3a/cureus-0015-00000051355-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b953/10825390/b3050fb7fa9c/cureus-0015-00000051355-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b953/10825390/d83d3602768e/cureus-0015-00000051355-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b953/10825390/8ea4d7b22c3a/cureus-0015-00000051355-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b953/10825390/b3050fb7fa9c/cureus-0015-00000051355-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b953/10825390/d83d3602768e/cureus-0015-00000051355-i03.jpg

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JACC Case Rep. 2023 Aug 16;20:101939. doi: 10.1016/j.jaccas.2023.101939.
2
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Curr Opin Hematol. 2021 Sep 1;28(5):339-344. doi: 10.1097/MOH.0000000000000663.
3
Hereditary protein S deficiency leads to ischemic stroke.遗传性蛋白S缺乏会导致缺血性中风。
Mol Med Rep. 2015 Sep;12(3):3279-3284. doi: 10.3892/mmr.2015.3793. Epub 2015 May 18.
4
Isolated protein S deficiency presenting as catastrophic systemic arterial and subsequently venous thrombosis.孤立性蛋白S缺乏症表现为灾难性的全身性动脉血栓形成，随后出现静脉血栓形成。
Australas Med J. 2012;5(8):424-8. doi: 10.4066/AMJ.2012.1309. Epub 2012 Sep 9.
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Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency.在点突变阴性的遗传性蛋白S缺乏症中，PROS1基因的大片段缺失/重复相对常见。
Hum Genet. 2009 Sep;126(3):449-56. doi: 10.1007/s00439-009-0687-9. Epub 2009 May 23.
6
Hereditary deficiency of protein C or protein S confers increased risk of arterial thromboembolic events at a young age: results from a large family cohort study.蛋白C或蛋白S的遗传性缺乏会增加年轻时发生动脉血栓栓塞事件的风险：一项大型家系队列研究的结果
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