Pediatric celiac disease and coexisting immune-mediated conditions: a five-year single-center study from...

Celiac disease is among the most common chronic gastrointestinal disorders in childhood and is frequently associated with other autoimmune conditions. The 2020 ESPGHAN guidelines revised pediatric celiac disease diagnosis by allowing non-biopsy confirmation in selected cases. Despite growing global data, evidence from Eastern Europe remains limited, and contemporary regional data describing pediatric celiac disease in routine clinical practice remain scarce.

We conducted a retrospective, single-center study including 58 pediatric patients with confirmed celiac disease followed between 2020 and 2024 at a tertiary pediatric center in North-Eastern Romania. All patients fulfilled the 2020 ESPGHAN criteria and were stratified according to the presence or absence of coexisting immune-mediated conditions.

Eighteen patients (31.0%) had at least one coexisting immune-mediated condition, most commonly type 1 diabetes mellitus and autoimmune thyroiditis. Female sex predominated in the cohort (female-to-male ratio 3.1:1) and was significantly more common among patients with coexisting immune-mediated conditions. Children with these conditions were diagnosed with celiac disease at an older age (p = 0.020) and were more often asymptomatic at diagnosis (27.8% vs. 2.5%; p = 0.009). In contrast, children without coexisting immune-mediated conditions were predominantly diagnosed based on symptomatic evaluation, often with mixed gastrointestinal and extraintestinal presentations.

These findings highlight the clinical heterogeneity of pediatric celiac disease according to immune-mediated condition status and suggest that differences in clinical surveillance may influence diagnostic patterns in routine practice. The results support the importance of targeted surveillance and screening strategies in children at increased autoimmune risk.