Celiac disease in children with Down syndrome

Area of Science:

• Pediatrics
• Gastroenterology
• Genetics

Background:

• Celiac disease (CD) prevalence in children with Down syndrome (DS) is documented globally, but data from Colombia were lacking.
• This study addresses the need for local epidemiological data on CD in Colombian children with DS.

Purpose of the Study:

• To determine the frequency of CD in children with DS compared to children without DS in Colombia.
• To identify clinical, immunological, and genetic factors associated with CD in this population.

Main Methods:

• A cohort of 209 children (97 with DS, 112 without DS) aged 1-18 years were screened for CD using anti-transglutaminase (tTG2) antibodies.
• Children with positive tTG2 underwent duodenal biopsy and HLA-DQ2 genotyping. Clinical and demographic data were collected.
• Statistical analyses included proportion estimation, central tendency measures, and univariate/bivariate analysis (p < 0.05).

Main Results:

• The prevalence of positive tTG2 was 8.2% in children with DS and 4.5% in controls (p=0.200).
• Confirmed CD (Marsh II) was diagnosed in 1.0% of children with DS. Potential CD was found in 2.1% of children with DS and 1.8% of controls.
• CD was significantly more likely in the preschool age group (OR=6.14, p=0.0462), and HLA-DQ2 was the main associated allele.

Conclusions:

• The frequency of biopsy-confirmed CD in Colombian children with DS is lower than previously reported internationally.
• Preschool age and the HLA-DQ2 allele are associated factors for CD in children with DS.
• Findings align with global trends, providing essential data for Colombian healthcare.