Objectives To investigate the frequency of coeliac disease (CD)-specific human leucocyte antigen (HLA) genotypes in paediatric patients with type 1 diabetes (T1D), who are known to have a higher prevalence of CD than the general population, and to evaluate whether HLA genotyping is a suitable first-line screening method for CD.
Study design The study was a multicentre observational analysis of patients with T1D aged <20 years of whom a subgroup had undergone HLA genotyping. Patient data were retrieved from the Diabetes Prospective Follow-up database, a large diabetes follow-up registry. The present analysis included data from 439 centres throughout Germany, Austria, Switzerland and Luxembourg.
Results In March 2017, the database contained 75 202 patients with T1D (53% male, mean age (SD) 14.6 (4.1) years, mean age at diagnosis 8.8 (4.3) years and mean diabetes duration 5.8 (4.3) years). 1624 patients had undergone coeliac-specific HLA genotyping, of whom 1344 (82.8%) were positive for HLA-DQ2, HLA-DQ8 or both, while 17.2% had no coeliac-specific HLA-markers. 26.6% of at-risk patients had a clinical suspected diagnosis of CD, and 3.6% had biopsy-proven CD.
Conclusions Genotyping for HLA-DQ2, HLA-DQ8 or both is positive in the vast majority (>80%) of patients with T1D. Therefore, screening for coeliac-specific HLA genotypes as a first-line test is not a suitable method to exclude CD in T1D. Regular screening for coeliac-specific antibodies in T1D is still recommended.
- paediatric practice
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Contributors We confirm that all authors have participated in the concept and design, analysis and interpretation of the data and have approved this submitted version of the manuscript and take full responsibility for the manuscript. EB, NP and RWH collected and researched the data, wrote and edited the manuscript. TR, CD, WM, UO, HS-H, US, HS and EEF-R contributed to data collection and interpretation and edited the manuscript. NP and RWH performed statistical analyses.
Funding The DPV initiative is funded by the German Ministry of Education and Research (BMBF) as part of the German Center for Diabetes Research (DZD, grant number: 82DZD0017G). Additional funding was provided by the German Diabetes Association (DDG) and the European Foundation for the Study of Diabetes (EFSD). Furthermore, funding was available from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement number: 115797 (INNODIA) supported by the European Union’s Horizon 2020 research and innovation programme and ‘EFPIA’, ‘JDRF’ and ‘The Leona M. and Harry B. Helmsley Charitable Trust’.
Competing interests None declared.
Patient consent Not required.
Ethics approval Approved by the local ethics committee of University Ulm, Germany.
Provenance and peer review Not commissioned; externally peer reviewed.
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