Screening for coeliac disease in 1624 mainly asymptomatic children with type 1 diabetes: is genotyping for coeliac-specific human leucocyte antigen the right approach?
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.
['Binder|Elisabeth|E|', 'Rohrer|Tilmann|T|', 'Denzer|Christian|C|', 'Marg|Wolfgang|W|', 'Ohlenschläger|Ute|U|', 'Schenk-Huber|Heike|H|', 'Schierloh|Ulrike|U|', 'Skopnik|Heino|H|', 'Fröhlich-Reiterer|Elke Elisabeth|EE|', 'Holl|Reinhard W|RW|', 'Prinz|Nicole|N|']
D000293:Adolescent D001317:Austria D002446:Celiac Disease D002648:Child D003922:Diabetes Mellitus, Type 1 D042241:Early Diagnosis D005260:Female D005838:Genotype D005858:Germany D006683:HLA-DQ Antigens D006650:Histocompatibility Testing D006801:Humans D008189:Luxembourg D008297:Male D013557:Switzerland
screening diabetes gastroenterology immunology paediatric practice