Ucar Mehmet Ali, Sener Meryem, Dokuyucu Recep
Department of Hematology, Faculty of Medicine, Balcalı Hospital, Cukurova University, Adana 01330, Turkey.
Department of Physiology, Medical Specialization Training Center (TUSMER), Ankara 06230, Turkey.
Korean J Physiol Pharmacol. 2025 Jul 1;29(4):399-408. doi: 10.4196/kjpp.24.214. Epub 2025 Apr 28.
Aplastic anemia (AA) is a rare bone marrow failure syndrome marked by hypocellular bone marrow and pancytopenia, typically without abnormal infiltration or reticulin fiber increase. It often presents as acute, severe cytopenia in young adults and can have high mortality if untreated. Recent advancements, including immunosuppressive therapy (IST) combined with eltrombopag and hematopoietic stem cell transplantation (HSCT), have improved patient outcomes. This review discusses current etiopathogenesis involving immune dysregulation, genetic mutations, and environmental triggers. Accurate differential diagnosis, distinguishing AA from myelodysplastic syndromes and paroxysmal nocturnal hemoglobinuria, is essential for effective treatment. We also highlight emerging therapies, such as mismatched unrelated donor (MMUD) transplantation and precision medicine targeting genetic abnormalities. AA, with an incidence of 2-4 per million annually, peaks at ages 15-25 and over 60. These insights continue to reshape AA prognosis and management. This disease typically manifests as acute, severe cytopenia, particularly in young adults, and has a high mortality rate if untreated. Advances in treatment, including IST combined with eltrombopag and HSCT, have significantly improved outcomes. In this review, we explore the current etiopathogenesis, including immune dysregulation, genetic mutations, and environmental factors. The differential diagnosis of AA, distinguishing it from conditions such as myelodysplastic syndromes and paroxysmal nocturnal hemoglobinuria, is critical for tailored treatment. AA remains a rare disease, with an annual incidence of 2-4 per million, and peaks in occurrence during the ages of 15-25 and over 60. These advancements in understanding and managing AA continue to transform its prognosis and patient care.
再生障碍性贫血（AA）是一种罕见的骨髓衰竭综合征，其特征为骨髓细胞减少和全血细胞减少，通常无异常浸润或网状纤维增多。它常表现为年轻成人的急性、严重血细胞减少，若不治疗，死亡率可能很高。包括免疫抑制治疗（IST）联合艾曲泊帕以及造血干细胞移植（HSCT）在内的最新进展改善了患者的预后。本综述讨论了当前涉及免疫失调、基因突变和环境触发因素的病因病机。准确的鉴别诊断，即将AA与骨髓增生异常综合征和阵发性夜间血红蛋白尿区分开来，对于有效治疗至关重要。我们还强调了新兴疗法，如不相合无关供体（MMUD）移植和针对基因异常的精准医学。AA的年发病率为百万分之2 - 4，发病高峰在15 - 25岁以及60岁以上人群。这些见解不断重塑AA的预后和管理。这种疾病通常表现为急性、严重血细胞减少，尤其是在年轻成人中，若不治疗死亡率很高。治疗方面的进展，包括IST联合艾曲泊帕和HSCT，显著改善了预后。在本综述中，我们探讨了当前的病因病机，包括免疫失调、基因突变和环境因素。AA与骨髓增生异常综合征和阵发性夜间血红蛋白尿等疾病的鉴别诊断对于个性化治疗至关重要。AA仍然是一种罕见疾病，年发病率为百万分之2 - 4，发病高峰在15 - 25岁以及60岁以上。对AA认识和管理方面的这些进展不断改变其预后和患者护理。
