Papadopoulou Konstantina, Papadopoulou Efthymia, Proimos Christoforos, Sachla Zacharo, Tryfon Stavros
Internal Medicine Department, "G. Papanikolaou" General Hospital of Thessaloniki, Thessaloniki, GRC.
Pulmonology Department, "G. Papanikolaou" General Hospital of Thessaloniki, Thessaloniki, GRC.
Cureus. 2024 Apr 2;16(4):e57462. doi: 10.7759/cureus.57462. eCollection 2024 Apr.
Sickle cell disease is the most common genetic hemoglobinopathy worldwide, characterized by a single-nucleotide mutation that predisposes to hemoglobin polymerization and erythrocyte sickling in hypoxic states. This report describes a 62-year-old male obese patient with a history of sickle cell disease, who presented with worsening nocturnal pain crises without any apparent triggering factor. A thorough evaluation at the outpatient department revealed obstructive sleep apnea. Airway obstruction or decreased respiratory effort during sleep may induce hypoventilation and hypoxia in the context of sleep-disordered breathing, with severe cardiopulmonary complications. Sleep-disordered breathing is considered common in children with sickle cell disease, but the prevalence in adults has not been sufficiently documented. Our patient responded favorably to treatment with continuous positive airway pressure during sleep, showing complete resolution of his symptoms. Timely diagnosis and management are fundamental to improve outcomes and prevent severe complications.
镰状细胞病是全球最常见的遗传性血红蛋白病,其特征是单核苷酸突变,易导致血红蛋白在低氧状态下聚合和红细胞镰变。本报告描述了一名62岁的肥胖男性镰状细胞病患者,他出现夜间疼痛危机加重,且无任何明显触发因素。门诊的全面评估显示存在阻塞性睡眠呼吸暂停。睡眠呼吸紊乱时,睡眠期间气道阻塞或呼吸努力降低可能会导致通气不足和缺氧,并引发严重的心肺并发症。睡眠呼吸紊乱在镰状细胞病儿童中较为常见,但在成人中的患病率尚无充分记录。我们的患者对睡眠期间持续气道正压通气治疗反应良好,症状完全缓解。及时诊断和管理对于改善预后和预防严重并发症至关重要。