The identification of celiac disease in asymptomatic children: the Generation R Study

J Gastroenterol. 2018 Mar;53(3):377-386. doi: 10.1007/s00535-017-1354-x. Epub 2017 Jun 6.

Abstract

Background: The objective of our study was to assess whether TG2A levels in the healthy childhood population can be predictive of subclinical CD.

Methods: A total of 4442 children (median age, 6.0 years) participating in a population-based prospective cohort study were screened on serum TG2A. Those with positive TG2A (≥7 U/ml; n = 60, 1.4%) were invited for clinical evaluation (median age, 9.0 years). Medical history, physical examination, serum TG2A, and IgA-endomysium (EMA) were assessed, as well as HLA DQ 2.2/2.5/8 typing. Patients with positive serologies and genetic risk types underwent duodenal biopsies. TG2A levels at the time of biopsy were compared with the degree of enteropathy.

Results: Fifty-one TG2A-positive children were included in the follow-up: 31 (60.8%) children had CD, ten (19.6%) did not have CD, and ten (19.6%) were considered potential CD cases because of inconclusive serologies. Duodenal biopsies were performed in 26/31 children. CD with Marsh 3a/b enteropathy was observed in 75% (15/20) of children having TG2A levels ≥10ULN at 6 years of age, as well as in 75% (6/8) of children having a positive TG2A <10 ULN (OR 1.00; 95% CI 0.15-6.64). CD cases had a lower BMI SDS (mean -0.49, SD 0.92) than children without CD (mean 0.47, SD 1.37; p = 0.02). No differences were observed in gastrointestinal symptoms.

Conclusions: Serum TG2A screening at 6 years of age in the healthy childhood population has a positive predictive value of 61% to detect subclinical CD. We did not find a positive correlation between serum TG2A levels and the degree of enteropathy.

Keywords: Celiac disease; Child; Cohort study; Screening; Tissue transglutaminase type 2 antibodies.

MeSH terms

  • Asymptomatic Diseases*
  • Biopsy
  • Celiac Disease / blood*
  • Celiac Disease / diagnosis*
  • Celiac Disease / pathology
  • Child
  • Female
  • Follow-Up Studies
  • GTP-Binding Proteins / immunology*
  • HLA-DQ Antigens / genetics
  • Haplotypes
  • Humans
  • Immunoglobulin A / blood*
  • Male
  • Mass Screening
  • Netherlands
  • Prospective Studies
  • Protein Glutamine gamma Glutamyltransferase 2
  • Statistics, Nonparametric
  • Transglutaminases / immunology*

Substances

  • HLA-DQ Antigens
  • HLA-DQ2 antigen
  • HLA-DQ8 antigen
  • Immunoglobulin A
  • Protein Glutamine gamma Glutamyltransferase 2
  • Transglutaminases
  • GTP-Binding Proteins

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