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Published on: October 15, 2019
Limited role of HLA DQ2/8 genotyping in diagnosing coeliac disease
Siba P Paul1, Matthew Hoghton2, Bhupinder Sandhu3,4
11 Consultant Paediatrician, Department of Paediatrics, Torbay Hospital, UK.
Insights
Human leukocyte antigen (HLA)-DQ2/DQ8 testing is crucial for diagnosing coeliac disease in children with high antibody levels. However, it should not be used for general screening due to low disease prevalence in the general population.
Area of Science:
- Pediatric Gastroenterology
- Immunogenetics
- Autoimmune Diseases
Background:
- European guidelines (2012) allow coeliac disease diagnosis in symptomatic children without biopsy if anti-tissue transglutaminase (anti-tTG) >10×ULN and anti-endomysial antibody positive.
- High anti-tTG titres necessitate further confirmation, with HLA-DQ2/DQ8 testing recommended in specific scenarios.
- The general population has a high prevalence of HLA-DQ2/DQ8 (25-40%), but a low coeliac disease incidence (0.1-1%).
Purpose of the Study:
- To clarify the appropriate use of HLA-DQ2/DQ8 testing in pediatric coeliac disease diagnosis.
- To address inappropriate HLA-DQ2/DQ8 testing in primary and secondary care settings.
- To guide clinicians in non-specialist settings on the diagnostic role of HLA-DQ2/DQ8.
Main Methods:
- Review of European guidelines for coeliac disease diagnosis.
- Analysis of case referrals to a tertiary pediatric gastroenterology center.
- Evaluation of the diagnostic utility of HLA-DQ2/DQ8 testing in conjunction with serological markers.
Main Results:
- Inappropriate requests for HLA-DQ2/DQ8 testing were identified in primary and secondary care.
- This suggests a misunderstanding of the test's specific role in coeliac disease diagnosis.
- HLA-DQ2/DQ8 testing is recommended only for children with very high anti-tTG titres (>10×ULN) for diagnostic confirmation.
Conclusions:
- HLA-DQ2/DQ8 testing should not be used for screening or general diagnosis of coeliac disease in children.
- Its application is restricted to confirming coeliac disease in children with highly elevated anti-tTG levels.
- Improved understanding and adherence to guidelines are needed to optimize HLA-DQ2/DQ8 testing in pediatric coeliac disease management.
Abstract:
The European guidelines for diagnosing coeliac disease in children were revised in 2012. These recommend that in symptomatic children, a diagnosis of coeliac disease can be made without small-bowel biopsies provided their anti-tissue transglutaminase (anti-tTG) titre is >10 times of upper-limit-of-normal (>10×ULN) and anti-endomysial antibody is positive. In order to firm up the diagnosis in these children with very high anti-tTG titre, HLA-DQ2/DQ8 should be checked and be positive. Approximately 25-40% of white Caucasian population has HLA-DQ2/DQ8 haplotype. However, only 0.1-1% of the population will develop coeliac disease. Therefore, HLA-DQ2/DQ8 testing must not be done to 'screen' or 'diagnose' children with coeliac disease. Its use by paediatricians should be limited to children with anti-tTG>10×ULN, where the diagnosis of coeliac disease is being made on serology alone. A review of case referrals made to a tertiary paediatric gastroenterology centre in Southwest England demonstrated that HLA-DQ2/DQ8 testing is being requested inappropriately both in primary and secondary care suggesting a poor understanding of its role in diagnosis of coeliac disease. This article aims to clarify the role of HLA-DQ2/DQ8 testing for clinicians working in non-specialist settings.
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