Department of Clinical and Biological Sciences, University of Turin, Regione Gonzole, 10, Orbassano, I-10043 Turin, Italy.
Laboratory of Clinical and Microbiological Analyses, San Luigi Gonzaga Hospital, Orbassano, I-10043 Turin, Italy.
Int J Mol Sci. 2023 Dec 22;25(1):176. doi: 10.3390/ijms25010176.
Essential thrombocythemia (ET) is a myeloproliferative neoplasm variant characterized by excessive production of platelets. Since the most common cause of mortality and morbidity in ET patients is thrombosis, the excessive production of platelets may cause thrombotic events. However, little is known about the function of platelets in ET. We report a female patient who presented as asymptomatic, without a remarkable medical history, and ET was diagnosed after an incidental finding of moderate thrombocytosis. Notably, together with thrombocytosis, an abnormal platelet phenotype was found for the presence of a massive, rapid and spontaneous formation of aggregates and platelet hypersensitivity to subthreshold concentrations of aggregating agonists. Bone marrow histopathological examination and genetic analysis with the (V617F) gene mutation findings confirmed the initial suspicion of ET. Although the ET patient was placed on aspirin, the persistence of the platelet hyperactivation and hyperaggregability prompted a switch in antiplatelet medication from entero-coated (EC) to plain aspirin. As result, platelet hypersensitivity to agonists and spontaneous aggregation were no longer found. Collectively, our study demonstrates that platelet function analysis could be a reliable predictor of ET and that plain aspirin should be preferred over EC aspirin to attenuate platelet hyperreactivity.
原发性血小板增多症(ET)是一种骨髓增殖性肿瘤变异,其特征为血小板过度生成。由于 ET 患者最常见的死亡和发病原因是血栓形成,因此血小板的过度生成可能导致血栓事件。然而,关于血小板在 ET 中的作用知之甚少。我们报告了一名女性患者,其表现为无症状,无明显病史,在偶然发现中度血小板增多症后被诊断为 ET。值得注意的是,除了血小板增多症外,还发现了一种异常的血小板表型,存在大量、快速和自发性聚集形成以及血小板对亚阈值聚集激动剂浓度的超敏反应。骨髓组织病理学检查和基因分析发现 (V617F) 基因突变证实了对 ET 的初步怀疑。尽管 ET 患者服用了阿司匹林,但血小板过度激活和高聚集性持续存在,促使抗血小板药物从肠溶(EC)阿司匹林转换为普通阿司匹林。结果,发现血小板对激动剂的超敏反应和自发性聚集不再存在。总之,我们的研究表明,血小板功能分析可能是 ET 的可靠预测指标,并且应该优先使用普通阿司匹林而不是 EC 阿司匹林来减轻血小板高反应性。