Copper deficiency masquerading as myelodysplastic syndrome.

Area of Science:

• Hematology
• Nutritional Medicine
• Bone Marrow Transplantation

Background:

• A patient presented with severe neutropenia and red blood cell transfusion dependency.
• Bone marrow morphology was consistent with myelodysplastic syndrome (MDS) with ringed sideroblasts.
• Previous Billroth II surgery was noted in the patient's history.

Observation:

• Initial treatment with erythropoietin and granulocyte colony-stimulating factor provided transient hematologic improvement.
• Relapse occurred despite continued growth factor therapy, necessitating evaluation for allogeneic bone marrow transplantation.
• Pre-transplantation nutritional assessment revealed severe copper deficiency.

Findings:

• Copper therapy led to complete resolution of anemia and neutropenia.
• The patient's hematologic abnormalities normalized without the need for bone marrow transplantation.
• This suggests a direct causal link between copper deficiency and the observed hematologic picture.

Implications:

• Copper deficiency should be considered in the differential diagnosis of sideroblastic myelodysplastic syndrome.
• This is relevant even in patients who do not receive parenteral nutrition.
• Timely diagnosis and treatment of copper deficiency can prevent the need for more aggressive therapies like bone marrow transplantation.