Bone Marrow Failure Differential Diagnoses

Updated: Dec 06, 2021
  • Author: Srikanth Nagalla, MD, MS, FACP; Chief Editor: Sara J Grethlein, MD, MBA, FACP  more...
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Diagnostic Considerations

Conditions to consider in the differential diagnosis of bone marrow failure include the following:

  • Myelodysplastic syndromes (MDS)
  • Large granular lymphocytic leukemia
  • Immune pancytopenias in connective tissue disorders  (eg, refractory anemia in systemic lupus erythematosus)

An evaluation for inherited bone marrow failure syndromes (IBMFS) should be considered for all patients presenting with aplastic anemia, MDS, acute myeloid leukemia (AML), and chronic unexplained cytopenias. This assessment is likely most critical for patients who are younger than age 40 years at presentation, but diagnosis of IBMFS has been reported in patients in their 50s or older. Patients with excess hematologic or other toxicities during treatment of an early-onset solid tumor characteristic of IBMFS also warrant an evaluation. [5]

Differential Diagnoses