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A 54-Year-Old Man With Pancytopenia

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A 54-year-old man presented for evaluation of new-onset pancytopenia. He had a distant history of viral myocarditis and was taking lisinopril, carvedilol, furosemide, aspirin, and a multivitamin. No new medications had been started in the past year. Twelve years prior, he underwent uncomplicated Roux-en-Y gastric bypass (RYGB) surgery. Review of systems was notable for fatigue and negative for fever, night sweats, weight loss, dyspnea, or abnormal bleeding. Examination revealed temperature of 36.7°C; heart rate, 91/min; blood pressure, 120/70 mm Hg; and body mass index, 20.1 (calculated as weight in kilograms divided by height in meters squared). He was well-appearing with conjunctival pallor but no petechiae, no hepatosplenomegaly, and a normal neurologic examination.

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Pancytopenia secondary to copper deficiency

A. Check serum trace element levels, including iron, copper, and zinc

The key to the correct diagnosis in this case is the patient’s history of gastric bypass surgery, a risk factor for micronutrient deficiencies including copper deficiency. As part of the workup for pancytopenia or suspected myelodysplastic syndrome (MDS), potentially reversible causes of bone marrow failure such as nutritional deficiencies must be ruled out. Workup for nutritional deficiency should be performed before serologic and endoscopic evaluation for celiac disease. In this patient, iron and zinc levels were normal; however, serum copper level was less than 5 µg/dL (reference range, 70-175). In asymptomatic cases of pancytopenia due to copper deficiency, a trial of copper repletion should precede treatment with blood transfusions or erythropoiesis-stimulating agent.

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Article Information

Corresponding Author: Heather E. Nye, MD, PhD, 4150 Clement St, San Francisco, CA 94121 (Heather.Nye@ucsf.edu).

Published Online: February 11, 2019. doi:10.1001/jama.2018.21899

Conflict of Interest Disclosures: None reported.

Additional Contributions: We sincerely thank Chuanyi Mark Lu, MD (University of California, San Francisco/San Francisco VA Health Care System, Department of Laboratory Medicine), for his expertise in analyzing hematologic specimens and preparing images. We thank the patient for providing permission to share his information.

References
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