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J Clin Diagn Res. 2017 Sep;11(9):OD03-OD04. doi: 10.7860/JCDR/2017/27336.10582. Epub 2017 Sep 1.
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The utility of thrombophilia testing.血栓形成倾向检测的效用。
Clin Chem Lab Med. 2014 Apr;52(4):495-7. doi: 10.1515/cclm-2013-0559.
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Mortality and inherited thrombophilia: results from the European Prospective Cohort on Thrombophilia.血栓形成倾向的欧洲前瞻性队列研究：死亡率与遗传性血栓形成倾向。
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Risk assessment for recurrent venous thrombosis.复发性静脉血栓形成的风险评估。
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Clinical guidelines for testing for heritable thrombophilia.遗传性血栓形成倾向检测临床指南。
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Genetics of venous thrombosis.静脉血栓形成的遗传学
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Risk of venous thromboembolism in relatives of symptomatic probands with thrombophilia: a systematic review.有症状的易栓症先证者亲属发生静脉血栓栓塞的风险：一项系统评价。
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Unilateral chronic thromboembolic pulmonary disease associated with combined inherited thrombophilia.与遗传性血栓形成倾向合并相关的单侧慢性血栓栓塞性肺疾病
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Combined factor V Leiden and prothrombin genotyping in patients presenting with thromboembolic episodes.伴有血栓栓塞事件的患者中联合因子V莱顿突变和凝血酶原基因分型
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一名年轻男性因危及生命的肺栓塞出现的合并血栓形成倾向

Combined Thrombophilia in a Young Male Presenting as Life Threatening Pulmonary Embolism.

作者信息

Pradhan Akshyaya, Shukla Ayush, Jain Mili, Mehrotra Anupam, Sethi Rishi

机构信息

Assistant Professor, Department of Cardiology, King George's Medical University, Lucknow, Uttar Pradesh, India.

Senior Resident, Department of Cardiology, King George's Medical University, Lucknow, Uttar Pradesh, India.

出版信息

J Clin Diagn Res. 2017 Sep;11(9):OD03-OD04. doi: 10.7860/JCDR/2017/27336.10582. Epub 2017 Sep 1.

DOI:10.7860/JCDR/2017/27336.10582
PMID:29207759
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5713781/
Abstract

Combined hereditary thrombophilia is an uncommon entity associated with higher risk of early onset thrombosis. We report a case of 39-year-old male with combined deficiency of natural anticoagulants (protein C, S and anti thrombin) along with hyper homocystenemia and factor V Leiden mutation, presenting with life threatening bilateral pulmonary embolism. The clinical implications of combined thrombophilia are also discussed.

摘要

复合型遗传性易栓症是一种不常见的病症，与早发性血栓形成的较高风险相关。我们报告一例39岁男性患者，其存在天然抗凝剂（蛋白C、蛋白S和抗凝血酶）联合缺乏，同时伴有高同型半胱氨酸血症和凝血因子V莱顿突变，表现为危及生命的双侧肺栓塞。文中还讨论了复合型易栓症的临床意义。