■真性红细胞增多症(PV)是由世界卫生组织(WHO)标准2016诊断的骨髓增殖性肿瘤(MPN)之一,需要存在3个主要标准:高血红蛋白/血细胞比容,骨髓检查结果,和Janus激酶2(JAK2)突变或两个主要和一个次要标准,包括促红细胞生成素(EPO)水平。然而,在临床实践中,由于可能被吸烟或阻塞性睡眠呼吸暂停(OSA)等红细胞增多的继发原因所掩盖,因此可能出现诊断困难.
■这里,我们报道了一位55岁的绅士,在家庭持续气道正压通气(CPAP)机上患有OSA的病态肥胖,偶然发现患有红细胞增多症。进一步的评价证实了PV的诊断。
■PV可以通过基于历史的继发性红细胞增多症的假设来掩盖。这强调了通过JAK2和EPO测试筛选此类队列以避免遗漏PV的重要性。
UNASSIGNED: Polycythemia vera (PV) is one of the myeloproliferative neoplasms (MPN) diagnosed by World Health Organization (WHO) criteria 2016, which requires the presence of 3 major criteria: high hemoglobin/hematocrit, bone marrow findings, and Janus Kinase 2 (JAK2) mutation or two major and one minor criteria, including erythropoietin (EPO) level. However, in clinical practice, difficulties in diagnosis can arise as it may be masked by secondary causes for erythrocytosis such as smoking or obstructive sleep apnea (OSA).
UNASSIGNED: Here, we report a 55-year-old gentleman, morbidly obese with OSA on home continuous positive airway pressure (CPAP) machine, who was incidentally found to have polycythemia. Further evaluation confirmed the diagnosis of PV.
UNASSIGNED: PV can be masked by the assumption of secondary polycythemia based on history. This underscores the importance of screening such cohort through JAK2 and EPO testing to avoid missing PV.