Current view on the etiopathogenesis of aplastic anemia.

Abstract

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.