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The identification of celiac disease in asymptomatic children: the Generation R Study
Michelle Jansen1,2,3, Menno van Zelm3,4, Michael Groeneweg5
1The Generation R Study Group, Erasmus MC, University Medical Center, Rotterdam, The Netherlands.
Insights
Serum tissue transglutaminase 2 antibody (TG2A) screening in children predicts celiac disease (CD) with 61% accuracy. Elevated TG2A levels at age 6 can identify subclinical CD, though not correlated with enteropathy severity.
Area of Science:
- Pediatric Gastroenterology
- Immunology
- Celiac Disease Research
Background:
- Subclinical celiac disease (CD) detection in children is crucial for early intervention.
- Tissue transglutaminase 2 antibody (TG2A) is a known biomarker for CD.
Purpose of the Study:
- To evaluate the predictive value of serum TG2A levels in a healthy childhood population for identifying subclinical CD.
- To assess the correlation between TG2A levels and the degree of enteropathy in pediatric CD cases.
Main Methods:
- A prospective cohort study screened 4442 children for serum TG2A.
- Children with positive TG2A (≥7 U/ml) underwent clinical evaluation, serological testing (IgA-endomysium antibodies), and genetic typing.
- Duodenal biopsies were performed for children with positive serologies and genetic risk, with TG2A levels compared to enteropathy severity.
Main Results:
- Of 51 TG2A-positive children followed, 31 (60.8%) had CD, and 10 (19.6%) were potential cases.
- CD with Marsh 3a/b enteropathy was observed in 75% of children with TG2A levels ≥10 ULN at age 6.
- CD cases exhibited a lower BMI SDS compared to children without CD; no difference in GI symptoms was noted.
Conclusions:
- Serum TG2A screening at age 6 in healthy children demonstrates a 61% positive predictive value for detecting subclinical CD.
- No significant correlation was found between serum TG2A levels and the degree of enteropathy in pediatric CD patients.
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.
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