Ninety percent of celiac disease is being missed

M Ravikumara1, V K T Nootigattu, B K Sandhu

  • 1Department of Gastroenterology, Bristol Royal Hospital for Children, Upper Maudlin Street, Bristol, UK.

Insights

Celiac disease (CD) affects at least 1% of children, but most cases remain undiagnosed. This study highlights a significant gap between serological screening results and biopsy-confirmed diagnoses, indicating widespread underdiagnosis of CD in children.

Area of Science:

  • Pediatric Gastroenterology
  • Immunology
  • Epidemiology

Background:

  • Celiac disease (CD) prevalence is estimated at 1% in children.
  • The Avon Longitudinal Study of Parents and Children (ALSPAC) cohort includes 13,971 children.
  • Serological screening identified a high prevalence of potential CD cases.

Purpose of the Study:

  • To identify biopsy-confirmed CD cases within the ALSPAC cohort.
  • To estimate the discrepancy between serology-positive and biopsy-confirmed CD cases.
  • To determine the rate of undiagnosed celiac disease in children.

Main Methods:

  • Serological screening of 5,470 children aged 7.5 years from the ALSPAC cohort.
  • Referral of suspected CD cases to a single specialized center for confirmation.
  • Comparison of serological results with biopsy-confirmed diagnoses.

Main Results:

  • Serological screening indicated a CD prevalence of at least 1%.
  • A significant number of serology-positive children were not identified through biopsy confirmation.
  • The study suggests over 90% of pediatric CD cases may go undiagnosed.

Conclusions:

  • There is a substantial underdiagnosis of celiac disease in children.
  • Routine serological screening may overestimate CD prevalence without biopsy confirmation.
  • Improved diagnostic pathways are needed to identify and manage pediatric celiac disease.

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