SHM Converge Scientific Abstract ePoster Gallery-The Copper Conundrum : A Rare Mimic of Myelodysplastic Syndrome

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This case report describes a mid-60s woman whose anemia, leukopenia, and severe neutropenia initially raised concern for myelodysplastic syndrome (MDS). Her bone marrow biopsy showed findings commonly associated with MDS, including ringed sideroblasts and multilineage dysplasia, and flow cytometry suggested increased blasts. However, standard MDS mutation testing (SF3B1, TET2, ASXL1, DNMT3A) and the MDS FISH panel were negative. Further evaluation revealed profound copper deficiency, with a copper level of 5 mcg/dL, along with poorly controlled hypothyroidism.<br /><br />The report highlights that copper deficiency is a rare but important and potentially reversible cause of cytopenias that can closely mimic MDS. Because bone marrow abnormalities such as dysplasia and ringed sideroblasts can occur in both conditions, copper deficiency may be overlooked, leading to misdiagnosis and unnecessary treatment.<br /><br />After the patient began intravenous copper chloride infusions, her copper levels steadily improved and her hematologic abnormalities resolved. A repeat bone marrow biopsy later showed resolution of dysplasia, blasts decreased to 0.2%, and only 5% ringed sideroblasts remained. By follow-up, copper levels normalized and the patient was clinically well.<br /><br />The key message is that copper deficiency should be considered early in patients with unexplained cytopenias, especially when genetic testing for MDS is negative. Screening for nutritional deficiencies can prevent incorrect diagnosis, avoid unnecessary chemotherapy, and improve outcomes through simple copper replacement.

Asset Subtitle

Sahaja Carpenter

Meta Tag

Author List Ambica Chopra, Cayla Plummer, Collie Shaw, Jonathan Reppel, Manogna Allala, Sahaja Carpenter

Category Clinical Vignettes

Concept Copper Deficiency

Concept Anemia

Concept Neutropenia

Concept Myelodysplastic Syndrome

Concept Copper Replacement Therapy

Distinguished Non-Finalist

Presenter Organization Unity Health Medical Center

Presenting Author Sahaja Carpenter

Track Adult

Keywords

copper deficiency

myelodysplastic syndrome

cytopenias

ringed sideroblasts

bone marrow dysplasia

severe neutropenia

anemia

leukopenia

intravenous copper replacement

hypothyroidism

Copper Deficiency

Anemia

Neutropenia

Myelodysplastic Syndrome

Copper Replacement Therapy