Screening detects a high proportion of celiac disease in young HLA-genotyped children.
OBJECTIVE
Celiac disease is associated with tissue transglutaminase autoantibodies (tTGAb) and the human leukocyte antigen (HLA)-risk alleles DQB1*02 and DQB1*0302. The aim was to estimate the proportion of undiagnosed celiac disease in children with HLA risk at 3 years of age.


METHODS
From a population-based HLA-DQ screening study of newborns born between June 2001 and August 2004 in the southern part of Sweden, 6206 children with HLA-risk alleles were identified and asked to participate at a mean 3.3 +/- 0.4 years of age. As controls, 7654 children with HLA-nonrisk alleles were asked to participate. In all, 1620 (26.1%) children with HLA risk and 1815 (23.7%) controls were screened for tTGAb using radioligand-binding assays. Celiac disease was established by intestinal biopsy in children with a confirmed positive tTGAb test.


RESULTS
Twenty-three children reported already having clinically diagnosed celiac disease and did not participate further. In children with HLA-risk genotypes, 73 of 1620 (4.5%, 95% CI 3.5%-5.5%) were tTGAb-positive compared with none of 1815 from the controls (P < 0.0001). Seventy-one children underwent biopsy (1 refused biopsy and 1 biopsy failed), of whom 56 of 1618 (3.5%, 95% CI 2.6%-4.4%) had damaged intestinal mucosa classified as celiac disease. The ratio between clinically and screening detected celiac disease in this study was 1:2.4 (23:56).


CONCLUSIONS
The proportion of clinically undetected celiac disease may be particularly high among 3-year-old children with HLA-DQB1*02 and DQB1*0302 in Sweden, where these 2 HLA-risk alleles frequently occur.
Björck
Sara
S
Unit of Diabetes and Celiac Disease, Department of Clinical Sciences, University Hospital MAS, Lund University, Malmö, Sweden.
Brundin
Charlotte
C
Lörinc
Ester
E
Lynch
Kristian F
KF
Agardh
Daniel
D
D001323:Autoantibodies / Q000235:genetics* / Q000378:metabolism; D001706:Biopsy; D002446:Celiac Disease / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000276:immunology; D002675:Child, Preschool; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006683:HLA-DQ Antigens / Q000235:genetics*; D006801:Humans; D007413:Intestinal Mucosa / Q000473:pathology; D008403:Mass Screening; D013548:Sweden / Q000453:epidemiology; D011503:Transglutaminases / Q000276:immunology
D001323:Autoantibodies; D006683:HLA-DQ Antigens; D011503:Transglutaminases