Bone marrow failure syndromes across the age spectrum: diagnostic and therapeutic principles.

Abstract

Bone marrow failure syndromes (BMFS) are a diverse group of disorders that commonly present with pancytopenia and require a structured approach to evaluation. Initial assessment focuses on excluding reversible causes, followed by consideration of inherited and acquired conditions. Although the diagnostic approach is broadly similar across age groups, the underlying BMF etiology frequently differs: younger patients are more likely to have immune-mediated or inherited disease, whereas older adults more often have immune or clonal hematopoietic disorders. This review uses two age-defined cases to illustrate key diagnostic and management principles. Integration of clinical features, laboratory findings, and molecular testing is essential for accurate diagnosis. Timely referral to a hematologist and geneticist with expertise in bone marrow failure conditions can facilitate evaluation and multidisciplinary management. Careful classification, appropriate use of genetic testing, and ongoing monitoring are critical to guide treatment decisions, refine prognosis, and assess disease progression over time.