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

Abstract 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.

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Publication Details

Journal
JPGN Reports
Published
2026-10-15
DOI
https://doi.org/10.1002/jpr3.70251
Primary Topic
Celiac Disease Research and Management
Type
article
Field-Weighted Citation Impact
0.00
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article

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

David F. Carpentieri, Evan Greenhall, Paula Prieto‐Tizzard, Bri Best
JPGN Reports
Celiac Disease Research and Management
article

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

David F. Carpentieri, Evan Greenhall, Paula Prieto‐Tizzard, Bri Best
article en

Abstract

Abstract 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.

JPGN Reports
Phoenix Children's Hospital (US)
Openalex Percentile: Top 10%
Celiac Disease Research and Management
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