Bone Marrow Failure in Children: Approach to Diagnosis and Treatment

Bone marrow failure has many different etiologies, including genetic defects which manifest with specific syndromes, as well as acquired conditions as a result of insults to the bone marrow leading to aplasia. The clinical picture is varied and clues for the underlying cause may or may not be evident at the time of presentation, frequently leading to a complex workup with a battery of tests often done to rule out genetic defects. The treatment approach for bone marrow failure is very dependent on the underlying cause, which makes it all the more critical to have an accurate diagnosis. First line management essentially consists of either hematopoietic stem cell transplant or immunosuppressive therapy. In this review authors will provide a broad look at the causes of bone marrow failure, the stepwise diagnostic algorithm and the approach to decision making for treatment. Fine details of each cause, and of each treatment modality are beyond the scope of this review which aims to provide an overview.