Discordinate Recommendations for Celiac Screening with Down Syndrome

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VN Dargenio et al. J Pediatr Gastroenterol Nutr. 2026;83:304–313. A systematic review of celiac disease recommendations for children with Down syndrome

Background: “CD [celiac disease] prevalence in DS is higher than in the general population.10 The overlapping symptoms between CD and DS, such as growth failure, fatigue, GI disturbances, and, less frequently, neurological and behavioral problems, pose significant diagnostic challenges, as these are often attributed to underlying DS comorbidities, leading to delays in recognizing CD.4, 11 

Guidelines:

The authors note wide variation in the prevalence of CD in DS in various studies. “A meta-analysis of 31 studies including 4383 individuals found a pooled prevalence of biopsy-confirmed CD of 5.8% (95% CI 4.7%–7.2%), with slightly higher rates in children (6.6%) compared to mixed-age samples (5.1%)31…these findings align with the 5%–13% prevalence range documented in earlier European studies2“

The authors recommend the following strategy:

“Given the high prevalence of asymptomatic and atypical presentations, reliance on symptoms alone is insufficient. A pragmatic strategy should initiate with universal serological screening for all children with DS after gluten introduction (12–24 months of age), followed by periodic re-screening every 2–3 years, using tTG-IgA with total IgA assessment, supplemented by IgG-based assays in the context of the high rate of selective IgA deficiency in DS.”

My take: There are wide discrepancies in the recommendations for screening for celiac disease in asymptomatic individuals with Down syndrome.

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