Case Reports and Reviews: Open Access

Abstract 

Copper deficiency is an uncommon but clinically significant etiology of cytopenias that can closely resemble myelodysplastic syndrome (MDS), particularly when ring sideroblasts and multilineage dysplasia are observed. This morphological overlap presents a diagnostic challenge and may lead to misclassification, unnecessary treatments, and delays in appropriate management. Here, we report the case of a 60-year-old woman who presented with progressive fatigue and was found to have severe neutropenia. Bone marrow examination demonstrated hypercellularity with marked multilineage dysplasia and ring sideroblasts, initially raising concern for MDS with sideroblastic features. Nevertheless, initially exhaustive molecular testing, including an MDS next-generation sequencing panel, SF3B1 mutation analysis, and standard myelodysplastic syndrome fluorescence in situ hybridization (MDS FISH) studies, all yielded negative findings, prompting further evaluation for other reversible causes of dysplasia. Following comprehensive laboratory studies, profound copper deficiency was revealed. The patient started receiving copper repletion, resulting in rapid hematologic recovery, sustained improvement in neutrophil counts, and near-complete resolution of dysplastic morphology on repeat marrow evaluation. The case emphasizes the importance of early consideration of nutritional deficiencies in diagnostic differentials, particularly copper deficiency, in the differential diagnosis of unexplained cytopenias and dysplasia. Early recognition is critical to avoid inappropriate initiation of disease-modifying therapy and to ensure timely, effective, and reversible management and treatment. 

Keywords: Copper deficiency; Myelodysplastic syndrome; Sideroblasts; Cytopenias; Diagnostic pitfalls; Hematology; Nutritional deficiency.