Clinical spectrum of pediatric celiac disease based on histopathological and endoscopic findings

Objectives: Celiac disease (CD) is a chronic autoimmune enteropathy triggered by gluten ingestion in genetically susceptible individuals. In children, it presents with a wide range of clinical, endoscopic, and histopathological manifestations, often extending beyond classical gastrointestinal symptoms. Understanding these patterns is essential for early diagnosis and effective management. This study aimed to comprehensively describe the clinical presentations, endoscopic features, and histopathological patterns of pediatric CD and to explore the associations between these parameters and additional upper gastrointestinal lesions at King Saud Medical City (KSMC), Riyadh, Saudi Arabia. Methods: A retrospective analytical observational study was conducted at KSMC, Riyadh, Saudi Arabia. The study included 58 pediatric patients aged 1–14 years diagnosed with CD between January 2015 and April 2024. Data on demographics, clinical presentations, serological markers, endoscopic findings, histopathological classifications, and associated conditions were extracted from medical records. Statistical analyses were performed using the Statistical Package for the Social Sciences version 27, with Chi-square and Fisher’s exact tests applied to evaluate associations. Results: The mean age at diagnosis was 10.8 ± 4.2 years, with a female predominance (63.8%). Abdominal pain (53.4%), anemia (46.6%), diarrhea (22.4%), and weight loss (27.6%) were the most common symptoms. Endoscopic evaluation revealed scalloping in 46.6% of patients, gastritis in 48.3%, and esophagitis in 10.3%. Histopathological assessments showed Marsh III lesions in 94.8% of patients, with complete villous atrophy in 50.0% and crypt hyperplasia in 96.6%. Additional upper gastrointestinal lesions, including duodenal mucosal changes and nodular mucosa, were observed in nearly half of the cohort. However, no statistically significant associations were identified between endoscopic findings and Marsh classifications ( p > 0.05). Conclusion: Pediatric CD in this cohort was characterized by heterogeneous clinical symptoms, frequent endoscopic abnormalities, and advanced histopathological changes at diagnosis. The lack of correlation between endoscopic and histopathological findings highlights the continued necessity of duodenal biopsy for accurate diagnosis. Early recognition and multidisciplinary care remain essential to address both gastrointestinal and systemic manifestations of the disease. Clinicians should maintain a high index of suspicion and incorporate routine serological screening and timely biopsy in at-risk children to ensure earlier detection and improved outcomes.