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Diagnosis and management of coeliac disease in children
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.
Abstract:
Coeliac disease (CD) remains under diagnosed with only 10-20% of patients identified. Genes encoding HLA DQ2 or DQ8 are found in the vast majority of those with CD and testing for their presence can be useful to rule out the possibility CD. CD is more common in certain ethnic groups including those of North Indian origin. The classical presentation tends to occur in younger children, while atypical presentations occur at an older age. The number of children being diagnosed with CD is increasing; this may be due to greater recognition of the more atypical presentations, improved serologic tests, and the screening of asymptomatic groups at increased risk, but may also be due to an overall increased prevalence. Although serologic testing has become more reliable, there still remain significant problems around testing, particularly in those <18 months of age. All children should undergo a duodenal biopsy on a gluten containing diet in order to diagnose CD before recommending a gluten-free diet (GFD). A GFD should be offered to all children diagnosed with CD even when perceived as asymptomatic, as there is significant morbidity associated with CD later in life.
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