Assessment of Bone Marrow Failure Syndrome Management Outcome in Pediatrics – Saudi Perspective

Abstract

Bone Marrow Failure Syndrome (BMFS) is a rare yet severe condition affecting pediatric populations, characterized by a reduced production of hematopoietic lineages leading to pancytopenia. This article explores the multifaceted nature of BMFS in children, its diverse etiologies, treatment modalities, and outcomes, with a particular focus on the Saudi Arabian context. BMFS encompasses both inherited and acquired forms, often presenting diagnostic challenges due to its heterogeneity. Inherited BMFS accounts for 30% of cases and includes rare conditions like Fanconi Anemia and Schwachman-Diamond Syndrome, where treatment approaches vary depending on severity. Acquired BMFS, constituting 70% of cases, may exhibit complete recovery or require prolonged treatment with immunosuppressants. Hematopoietic Stem Cell Transplantation (HSCT) remains a primary treatment option, with outcomes influenced by factors such as donor type and graft success. Saudi Arabia, despite its high-income status, has faced limited data availability on BMFS outcomes, but the number of HSCT procedures performed in the country is steadily increasing. Survival rates in HSCT patients vary based on factors such as donor match and the underlying cause of BMFS. Additionally, the risk of secondary malignancies is relatively high in BMFS patients, adding complexity to long-term management. While Saudi studies indicate survival rates comparable to international standards, challenges in the assessment of BMFS outcomes persist, given the condition's rarity and diversity. This article underscores the importance of continued research and data collection to enhance our understanding and management of BMFS in the pediatric population, both in Saudi Arabia and globally.