Athota Soumya, Gopalan Sowmya, Arthur Preetam, Jayaram Ananthvikas, Satish Anjali
Internal Medicine, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.
Hematopathology, Anand Diagnostic Laboratory, Bengaluru, IND.
Cureus. 2024 Aug 19;16(8):e67194. doi: 10.7759/cureus.67194. eCollection 2024 Aug.
Paroxysmal nocturnal hemoglobinuria (PNH), a clonal hematopoietic stem cell disorder, arises from the increased sensitivity of red blood cells (RBC) to complement due to an acquired deficiency of certain glycosylphosphatidylinositol (GPI)-linked proteins, resulting in chronic intravascular hemolysis, arterial and venous thrombotic phenomena, multi-organ damage, and failure. We present an intriguing case of hemolytic anemia, initially suspected to be drug-induced, and later found to be associated with PNH, despite being a subclinical clone. A clinician should not hesitate to repeat fluorescent-labeled aerolysin (FLAER) cytometry if the clinical picture strongly favors a diagnosis of PNH. This case marks the importance of testing for PNH clones in autoimmune hemolytic anemia (AIHA) since their prevalence is not negligible and may correspond to a prominent hemolytic pattern, a higher thrombotic risk, and a higher therapeutic indication, such as eculizumab. This underscores the significance of conducting a thorough evaluation for occult causes of treatment-unresponsive hemolytic anemia, paving options for an early and alternative therapeutic approach.
阵发性睡眠性血红蛋白尿症(PNH)是一种克隆性造血干细胞疾病,由于某些糖基磷脂酰肌醇(GPI)连接蛋白的后天缺乏,导致红细胞(RBC)对补体的敏感性增加,从而引起慢性血管内溶血、动脉和静脉血栓形成现象、多器官损伤及功能衰竭。我们报告了一例有趣的溶血性贫血病例,最初怀疑是药物性的,后来发现与PNH有关,尽管是亚临床克隆。如果临床表现强烈支持PNH诊断,临床医生应毫不犹豫地重复进行荧光标记嗜水气单胞菌溶素(FLAER)细胞计数。该病例凸显了在自身免疫性溶血性贫血(AIHA)中检测PNH克隆的重要性,因为其患病率不可忽视,可能对应显著的溶血模式、更高的血栓形成风险以及更高的治疗指征,如依库珠单抗。这强调了对治疗无反应的溶血性贫血的隐匿病因进行全面评估的重要性,为早期和替代治疗方法提供了选择。