More than just anemia: Uncovering celiac disease beneath the surface: A case report

Celiac disease (CD) is an immune-mediated disorder triggered by gluten in genetically susceptible individuals. Although iron deficiency anemia is a common presentation, other micronutrient deficiencies may occur. We describe a 3.5-year-old female whose initial presentation of CD was severe, asymptomatic normocytic anemia secondary to copper (Cu) deficiency. She presented with mild abdominal symptoms, weight loss, and profound anemia (hemoglobin as low as 1.6 g/dL) requiring transfusions. Extensive infectious, inflammatory, hematologic, and oncologic evaluations were unrevealing. Workup demonstrated markedly elevated celiac serologies and low serum Cu. Endoscopy confirmed Marsh 3B duodenal changes consistent with CD. Treatment with a strict gluten-free diet and Cu supplementation led to normalization of hemoglobin, Cu levels, and growth parameters. This case highlights Cu deficiency-associated anemia as a rare pediatric presentation of CD and underscores the importance of considering CD in severe unexplained anemia with micronutrient deficiencies.