Severe Folate Deficiency Mimicking Myelodysplastic Syndrome/Acute Myeloid Leukemia: A Case Report.

Authors

Scott Potter, Margaret Williams, Timothy M Hanley

Published in

Case reports in hematology. Volume 2026. Pages 8212282. Epub Jul 24, 2026.

Abstract

Folate deficiency is common and often asymptomatic, but severe cases can cause megaloblastic anemia. Rarely, it presents with pancytopenia and bone marrow changes resembling myelodysplastic syndrome/neoplasm (MDS) and/or acute myeloid leukemia (AML), complicating diagnosis and management. We present a case of a patient with severe folate deficiency, in the setting of normal vitamin B12 levels, who presented with hematologic and bone marrow findings initially suggestive of MDS/AML that resolved with folate supplementation. This case highlights that the clinical and morphologic findings associated with severe folate deficiency can closely resemble those of high-risk MDS or MDS/AML. Careful diagnostic evaluation, including nutritional assessment, is essential to avoid the misclassification of reversible nutritional deficiencies as myeloid neoplasms requiring cytotoxic therapy.

PMID:
42502456
Bibliographic data and abstract were imported from PubMed on 26 Jul 2026.

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