Diagnosis and management of coeliac disease in children

Richard Steele1,

  • 1Immunology, Capital and Coast DHB, Wellington Hospital, Riddiford Street, Private Bag 7902, Wellington 6002, New Zealand. richard.steele@ccdhb.org.nz

Insights

Coeliac disease (CD) is underdiagnosed, affecting 10-20% of patients. Genetic testing for HLA DQ2/DQ8 can help rule out CD, and a gluten-free diet is recommended for all diagnosed children, even asymptomatic ones.

Area of Science:

  • Gastroenterology
  • Genetics
  • Pediatrics

Background:

  • Coeliac disease (CD) is significantly underdiagnosed, with only 10-20% of cases identified.
  • HLA DQ2 or DQ8 gene variants are present in most CD patients, aiding in diagnosis.
  • CD prevalence varies by ethnicity, notably higher in North Indian populations.

Purpose of the Study:

  • To highlight the diagnostic challenges and increasing prevalence of coeliac disease in children.
  • To emphasize the importance of genetic predisposition and varied clinical presentations.
  • To review current diagnostic strategies and the necessity of a gluten-free diet.

Main Methods:

  • Review of genetic associations (HLA DQ2/DQ8) in coeliac disease.
  • Analysis of demographic data and presentation patterns in pediatric CD.
  • Evaluation of diagnostic accuracy of serologic tests and duodenal biopsy.

Main Results:

  • Increasing diagnosis rates in children, potentially due to better recognition of atypical symptoms and improved screening.
  • Challenges in serologic testing for infants under 18 months.
  • HLA DQ2/DQ8 testing is valuable for excluding CD.

Conclusions:

  • A duodenal biopsy on a gluten-containing diet is essential for diagnosing CD in all children.
  • A gluten-free diet (GFD) is crucial for all diagnosed children, regardless of symptoms, to prevent long-term morbidity.

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