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Celiac disease in children with Down syndrome

Carlos Alberto Velasco-Benítez1, Lina Johanna Moreno-Giraldo2

  • 1Hospital Universitario del Valle, Departamento de Pediatría, Universidad del Valle, Cali, Colombia.

Revista Chilena De Pediatria
|March 19, 2020
PubMed

Insights

Celiac disease (CD) is less frequent in Colombian children with Down syndrome (DS) than previously reported. Preschool-aged children with DS showed a higher likelihood of CD, primarily associated with the HLA-DQ2 allele.

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.
Abstract

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