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甲型血友病合并凝血酶原G20210A杂合子患者的上肢深静脉血栓形成:一例报告并文献复习

Upper Limb Deep Vein Thrombosis in Patient with Hemophilia A and Heterozygosity for Prothrombin G20210A: A Case Report and Review of the Literature.

作者信息

Darawshy Fares, Kalish Yosef, Hendi Issam, Abu Rmelieh Ayman, Khoury Tawfik

机构信息

Department of Medicine, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

Department of Hematology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

出版信息

Case Rep Hematol. 2017;2017:7290945. doi: 10.1155/2017/7290945. Epub 2017 Sep 25.

DOI:10.1155/2017/7290945
PMID:29147591
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5632882/
Abstract

Deep vein thrombosis (DVT) is a rare disease in patients with hemophilia A. We report a case of 22-year-old male with severe hemophilia A who presented to the emergency room with 5-day history of right arm pain that was attributed initially to bleeding event. In the absence of external signs of bleeding or hematoma and normal hemoglobin level, we suspected an underlying DVT. Doppler ultrasonography of the right upper limb revealed thrombosis of the subclavian vein and this was confirmed by CT venography. The d-dimer level was normal and investigations for prothrombotic state revealed heterozygosity for prothrombin G20210A mutation. Treatment with factor VIII and low molecular weight heparin led to successful resolution and marked improvement of his clinical condition.

摘要

在甲型血友病患者中,深静脉血栓形成(DVT)是一种罕见疾病。我们报告一例22岁重度甲型血友病男性患者,该患者因右臂疼痛5天就诊于急诊室,最初认为是出血事件所致。在没有出血或血肿的外部体征且血红蛋白水平正常的情况下,我们怀疑存在潜在的深静脉血栓形成。右上肢多普勒超声检查显示锁骨下静脉血栓形成,CT静脉造影证实了这一诊断。D-二聚体水平正常,对血栓前状态的检查显示凝血酶原G20210A突变杂合子。使用凝血因子VIII和低分子量肝素治疗后,患者临床症状成功缓解且显著改善。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3cc9/5632882/7be54e9edd0f/CRIHEM2017-7290945.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3cc9/5632882/7be54e9edd0f/CRIHEM2017-7290945.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3cc9/5632882/7be54e9edd0f/CRIHEM2017-7290945.001.jpg

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Thromb Haemost. 2016 Jul 4;116(1):42-9. doi: 10.1160/TH15-10-0802. Epub 2016 Mar 24.
2
[Normal D-dimer in two patients with pacemaker and deep venous thrombosis in an upper extremity].[两名患有起搏器且上肢深静脉血栓形成患者的D-二聚体正常]
Ugeskr Laeger. 2015 Jan 26;177(2A):12-3.
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Spontaneous deep vein thrombosis in hemophilia A: a case report.
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Basilar artery thrombosis in a child heterozygous for prothrombin gene G20210A mutation.
J Child Neurol. 2007 Mar;22(3):329-31. doi: 10.1177/0883073807299861.
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Non-catheter associated venous thrombosis in hemophilia A and B. A critical review of all reported cases.甲型和乙型血友病中的非导管相关性静脉血栓形成。对所有已报道病例的批判性综述。
J Thromb Thrombolysis. 2006 Jun;21(3):279-84. doi: 10.1007/s11239-006-6556-7.
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Limited usefulness of D-dimer in suspected deep vein thrombosis of the upper extremities.D-二聚体在上肢疑似深静脉血栓形成中的应用价值有限。
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