A rare case of pancytopenia secondary to copper deficiency

Dr Kapil Saxena at the University of California, San Francisco and colleagues have reported a rare case of pancytopenia secondary to copper deficiency that has appeared in the JAMA Clinical Challenge.

Hypocupremia, or copper deficiency, is a rare and underrecognized cause of bone marrow dysplasia. Most cases of copper deficiency in adults occurred historically in patients receiving total parenteral hyperalimentation or total parental nutrition.

According to history, 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 the 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.

His Laboratory evaluation showed a white blood cell count of 1.7 × 103/μL with an absolute neutrophil count of 0.17 × 103/μL; haemoglobin level, 7 g/dL with a mean corpuscular volume of 103 fL (reticulocyte index, 0.94); and platelet count, 116 × 103/μL. Results of a complete blood cell count from 8 months prior were normal. Results of serum protein electrophoresis were normal, as were levels of lactate dehydrogenase, ferritin, folate, vitamin B12, and thyroid-stimulating hormone. A computed tomography (CT) scan of the abdomen showed no lymphadenopathy, masses, or hepatosplenomegaly. A peripheral blood smear showed occasional pseudo-Pelger-Huet cells and rare teardrop cells. Histopathologic examination of bone marrow aspirate revealed a normocellular marrow and dyserythropoiesis with vacuolized and dysplastic erythroid precursors (Figure, panel A), left-shifted granulocytic maturation with vacuolized granulocytic precursors, ring sideroblasts (Figure, panel B), and no increase in blasts. Cytogenetic studies from the bone marrow did not reveal any abnormalities.

Diagnosed as a case of pancytopenia secondary to copper deficiency, Supplementation was initiated with oral copper gluconate (4 mg 3 times daily). Within 2 months, serum copper level normalized and blood counts improved (hemoglobin, 13.2 g/dL; white blood cell count, 8.5 × 103/μL; absolute neutrophil count, 5.6 × 103/mL; and platelet count, 202 × 103/mL). The copper gluconate dosage was subsequently reduced and maintained at 2 mg daily without recurrence of cytopenias.