Inherited Bone Marrow Failure Syndromes

Abstract

The inherited bone marrow failure syndromes are a heterogeneous group of disorders characterized by bone marrow failure which may or may not be associated with one or more somatic abnormality. The bone marrow failure can involve all or a single cell lineage resulting in pancytopenia or single cytopenias, respectively. Their true incidence is not clear since most of them are misdiagnosed as cases of acquired aplastic anemia. These syndromes often present in childhood but may not do so until adulthood in some cases. Inherited marrow failure syndromes need to be considered in the differential diagnosis of patients with characteristic physical abnormalities when present, along with idiopathic aplastic anemia, myelodysplastic syndrome, acute myeloid leukemia, or other characteristic solid cancers at an unusually early age. Diagnosis is confirmed by the identification of pathogenic mutations associated with each syndrome.