Department of Cardiology, Guthrie Clinic/Robert Packer Hospital, One Guthrie Square, Sayre, PA 18840, USA.
Platelets. 2012;23(6):463-6. doi: 10.3109/09537104.2011.640966. Epub 2012 Jun 11.
Essential thrombocythemia (ET) is a myeloproliferative disorder characterized by hemorrhagic and thrombotic complications. We describe a rare case of ST-segment elevation myocardial infarction (STEMI) in a patient with previously undiagnosed ET, confirmed by gene mutation. A 68-year-old man presented with severe acute chest pain and was diagnosed with STEMI. Primary coronary angiography showed severe stenosis with thrombus in the proximal left anterior descending coronary artery. Percutaneous aspiration thrombectomy was performed with no residual stenosis. The patient was discharged on antiplatelet agents, aspirin, and clopidogrel. Further investigations for intracoronary thrombus with no underlying atherosclerotic disease revealed positive Janus kinase 2 (JAK2) V617F gene mutation, and this was consistent with a diagnosis of ET with elevated platelet count. This case describes a rare initial presentation of previously undiagnosed ET with acute STEMI and highlights the potential importance of secondary workup for non-atherosclerotic causes of STEMI with isolated intracoronary thrombus otherwise normal coronary vasculature with no focal atherosclerosis.
特发性血小板增多症（ET）是一种以出血和血栓并发症为特征的骨髓增生性疾病。我们描述了一例先前未诊断的 ET 患者发生 ST 段抬高型心肌梗死（STEMI）的罕见病例，该病例通过基因突变得到证实。一名 68 岁男性因严重急性胸痛就诊，被诊断为 STEMI。初次冠状动脉造影显示左前降支近端严重狭窄伴血栓。进行了经皮抽吸血栓切除术，没有残留狭窄。患者出院时服用抗血小板药物、阿司匹林和氯吡格雷。对无动脉粥样硬化性疾病的冠状动脉内血栓进行进一步检查，发现阳性 Janus 激酶 2（JAK2）V617F 基因突变，这与血小板计数升高的 ET 诊断一致。本病例描述了一例先前未诊断的 ET 患者以急性 STEMI 为首发表现的罕见情况，并强调了对于孤立性冠状动脉内血栓且其他正常冠状动脉血管无局灶性动脉粥样硬化的 STEMI 的非动脉粥样硬化性病因进行二级检查的重要性。
