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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Main Authors: Thomas Luo, Joanna Zurko, John Astle, Nirav N. Shah
Format: Article
Language:English
Published: Wiley 2021-01-01
Series:Case Reports in Hematology
Online Access:http://dx.doi.org/10.1155/2021/9661765
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author Thomas Luo
Joanna Zurko
John Astle
Nirav N. Shah
author_facet Thomas Luo
Joanna Zurko
John Astle
Nirav N. Shah
author_sort Thomas Luo
collection DOAJ
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 doaj-art-f2bce36f1ebe4cca8f2bc4f200340c782025-02-03T05:45:37ZengWileyCase Reports in Hematology2090-65792021-01-01202110.1155/2021/9661765Mimicking Myelodysplastic Syndrome: Importance of Differential DiagnosisThomas Luo0Joanna Zurko1John Astle2Nirav N. Shah3BMT & Cellular Therapy ProgramBMT & Cellular Therapy ProgramDepartment of PathologyBMT & Cellular Therapy ProgramCopper 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.http://dx.doi.org/10.1155/2021/9661765
spellingShingle Thomas Luo
Joanna Zurko
John Astle
Nirav N. Shah
Mimicking Myelodysplastic Syndrome: Importance of Differential Diagnosis
Case Reports in Hematology
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
url http://dx.doi.org/10.1155/2021/9661765
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