Copper deficiency with increased hematogones mimicking refractory anemia with excess blasts

We describe a 19-year-old male patient with a previous diagnosis of familial Mediterranean fever (FMF), nephrotic syndrome and secondary amyloidosis, who presented with anemia and leukopenia. The bone marrow assessments showed dysplastic precursors including vacuolated myeloid and erythroid precursors and increased proportion of immature cells up to 19%. The patient received erythropoietin and G-CSF for myelodysplastic syndrome (MDS). No response was observed. During his evaluations copper deficiency was detected. One month after oral copper replacement, the peripheral blood counts and bone marrow findings became completely normalized. An evaluation to identify the cause of copper deficiency, revealed intestinal amyloidosis. Based on our experience we recommend serum copper determination in the diagnostic workup of MDS in patients with comorbidities.