Current Espghan Guidelines for Celiac Disease in Pediatric Age, Tertiary Care Center Experience: A Proposal for
M Malamisura1, R Colantuono2, V M Salvati3
1Academic Department of Pediatrics, Ospedale Pediatrico Bambino Gesù, IRCCS, University of Rome, Italy.
Insights
In children with high celiac disease (CD) antibodies (anti-tTG2 IgA ≥ 10x), duodenal biopsy and HLA testing may be unnecessary. Serology alone is often sufficient for accurate CD diagnosis, saving resources and patient burden.
Area of Science:
- Pediatric Gastroenterology
- Immunology
- Genetics
Background:
- The 2012 ESPGHAN guidelines allow avoiding duodenal biopsy (DB) in children with celiac disease (CD) if specific criteria are met.
- These criteria include malabsorption, high anti-tissue transglutaminase IgA (tTG2) levels (≥ 10x cut-off), anti-endomysium IgA (EMA), and specific HLA DQ2/DQ8 genes.
Purpose of the Study:
- To evaluate the accuracy of the current ESPGHAN guidelines for diagnosing celiac disease in children.
- To report the center's experience with these diagnostic criteria.
Main Methods:
- Retrospective study of 481 children diagnosed with CD between 2012 and 2018.
- Analysis of family history, symptoms, serology (tTG2, EMA), genetics (HLA), Marsh grade, and follow-up data.
Main Results:
- The mean age of children not undergoing DB was lower (4.51 yrs) than those who did (6.48 yrs).
- In 256 patients with tTG2 ≥ 10-fold, 121 had DB (84 with mild symptoms, 37 asymptomatic); all showed Marsh type 3 and compatible HLA.
- Serology proved highly important for diagnosis, irrespective of symptoms.
Conclusions:
- Serological markers, particularly anti-tTG2 IgA ≥ 10x the cut-off, are crucial for diagnosing CD in children.
- Duodenal biopsy and HLA testing may be redundant and resource-intensive when high tTG2 levels are present, simplifying the diagnostic pathway.
Abstract:
According to the 2012 ESPGHAN criteria for diagnosis of celiac disease (CD), duodenal biopsy (DB) can be avoided in children with a clear malabsorption syndrome, anti-tissue transglutaminase IgA (tTG2) ≥ 10x the cut-off, anti-endomysium IgA (EMA) and HLA DQ2/DQ8 genes. The aim of this study is to report our experience and evaluate the accuracy of the actual guidelines.
Patients And Methods:
This is a retrospective study conducted on all patients diagnosed CD from 2012 to 2018 in our Center. For all patients enrolled were analyzed: data of family history, symptoms, serology, genetics, Marsh grade and follow-up.
Results:
A total of 481 children [mean age 6,4 yrs; F:M= 1.8:1] were included in the study. The mean age of patients who were not subject to DB was lower (4.51 yrs) comparing with patients that received DB (6.48 yrs). Out of the 256 patients with anti-tTG2 ≥ 10 fold, 121 underwent DB because of mild symptoms (84/121) or no symptoms (37/121). In all cases Marsh type 3 was found and HLA haplotypes was compatible with CD diagnosis.
Conclusions:
Our study confirms that the serology has a primary importance to diagnose CD, regardless of the symptoms. These data suggest that biopsy and HLA haplotypes search, in presence of anti-tTG2 IgA ≥ 10x the cut-off, are wasteful and unhelpful for the patients.
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