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与Janus激酶2 V617F突变相关的复发性难治性动脉血栓栓塞

Recurrent refractory arterial thromboembolism associated with the Janus kinase 2 V617F mutation.

作者信息

Ali Faisal R, Roberts Lara N, Mistry Hiren, Patel Raj K, Edmondson Robert A, Arya Roopen

机构信息

Department of Vascular Surgery, Kings College Hospital, London, United Kingdom.

出版信息

J Vasc Surg. 2009 Jan;49(1):211-3. doi: 10.1016/j.jvs.2008.07.007.

DOI:10.1016/j.jvs.2008.07.007
PMID:19174256
Abstract

We report two patients with peripheral vascular disease requiring multiple bilateral radiologic and surgical interventions, and whose disease was unresponsive to conventional anticoagulation and antiplatelet therapy. Although thrombocytosis was only intermittent, analysis of the Janus kinase 2 (JAK2) gene revealed a V617F mutation, thus confirming the presence of an underlying occult myeloproliferative disorder. We propose that JAK2 mutation analysis be considered in patients with recurrent, unexplained arterial events to identify those with occult myeloproliferative disorders.

摘要

我们报告了两名患有周围血管疾病的患者,他们需要多次进行双侧放射学和外科干预,且其疾病对传统抗凝和抗血小板治疗无反应。尽管血小板增多症只是间歇性的,但对Janus激酶2(JAK2)基因的分析显示存在V617F突变,从而证实存在潜在的隐匿性骨髓增殖性疾病。我们建议,对于反复出现不明原因动脉事件的患者,应考虑进行JAK2突变分析,以识别那些患有隐匿性骨髓增殖性疾病的患者。

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