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Mimicking Myelodysplastic Syndrome: Importance of Differential Diagnosis

Copper deficiency is a rare nutritional deficiency with hematological manifestations that mimic those found in myelodysplastic syndrome, a hematological malignancy incurable without allogeneic hematopoietic stem cell transplantation. Bone marrow biopsy findings and peripheral blood counts are oftent...

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Autores principales: Luo, Thomas, Zurko, Joanna, Astle, John, Shah, Nirav N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8648467/
https://www.ncbi.nlm.nih.gov/pubmed/34881068
http://dx.doi.org/10.1155/2021/9661765
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author Luo, Thomas
Zurko, Joanna
Astle, John
Shah, Nirav N.
author_facet Luo, Thomas
Zurko, Joanna
Astle, John
Shah, Nirav N.
author_sort Luo, Thomas
collection PubMed
description Copper deficiency is a rare nutritional deficiency with hematological manifestations that mimic those found in myelodysplastic syndrome, a hematological malignancy incurable without allogeneic hematopoietic stem cell transplantation. Bone marrow biopsy findings and peripheral blood counts are oftentimes insufficient to differentiate the two conditions. Moreover, the symptoms of copper deficiency can arise years after the surgery, making diagnosis a challenge. In patients with new-onset pancytopenia, copper deficiency must be considered on the differential, especially in the setting of known risk factors such as bariatric surgery, zinc supplementation, and celiac disease. Herein, we present a case of a 61-year-old female with a remote history of gastric bypass being evaluated for MDS in the context of progressive pancytopenia and new-onset paresthesias. The patient was found to have low serum copper and ceruloplasmin. Copper supplementation largely resolved the hematological abnormalities, but the limb paresthesias remain. This case highlights the need to identify copper deficiency early and distinguish it from MDS in order to prevent permanent neurological deficits and catastrophic response should the patient undergo hematopoietic stem cell transplantation.
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spelling pubmed-86484672021-12-07 Mimicking Myelodysplastic Syndrome: Importance of Differential Diagnosis Luo, Thomas Zurko, Joanna Astle, John Shah, Nirav N. Case Rep Hematol Case Report Copper deficiency is a rare nutritional deficiency with hematological manifestations that mimic those found in myelodysplastic syndrome, a hematological malignancy incurable without allogeneic hematopoietic stem cell transplantation. Bone marrow biopsy findings and peripheral blood counts are oftentimes insufficient to differentiate the two conditions. Moreover, the symptoms of copper deficiency can arise years after the surgery, making diagnosis a challenge. In patients with new-onset pancytopenia, copper deficiency must be considered on the differential, especially in the setting of known risk factors such as bariatric surgery, zinc supplementation, and celiac disease. Herein, we present a case of a 61-year-old female with a remote history of gastric bypass being evaluated for MDS in the context of progressive pancytopenia and new-onset paresthesias. The patient was found to have low serum copper and ceruloplasmin. Copper supplementation largely resolved the hematological abnormalities, but the limb paresthesias remain. This case highlights the need to identify copper deficiency early and distinguish it from MDS in order to prevent permanent neurological deficits and catastrophic response should the patient undergo hematopoietic stem cell transplantation. Hindawi 2021-11-29 /pmc/articles/PMC8648467/ /pubmed/34881068 http://dx.doi.org/10.1155/2021/9661765 Text en Copyright © 2021 Thomas Luo et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Luo, Thomas
Zurko, Joanna
Astle, John
Shah, Nirav N.
Mimicking Myelodysplastic Syndrome: Importance of Differential Diagnosis
title Mimicking Myelodysplastic Syndrome: Importance of Differential Diagnosis
title_full Mimicking Myelodysplastic Syndrome: Importance of Differential Diagnosis
title_fullStr Mimicking Myelodysplastic Syndrome: Importance of Differential Diagnosis
title_full_unstemmed Mimicking Myelodysplastic Syndrome: Importance of Differential Diagnosis
title_short Mimicking Myelodysplastic Syndrome: Importance of Differential Diagnosis
title_sort mimicking myelodysplastic syndrome: importance of differential diagnosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8648467/
https://www.ncbi.nlm.nih.gov/pubmed/34881068
http://dx.doi.org/10.1155/2021/9661765
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