Dig Liver Dis. 2023 May;55(5):608-613. doi: 10.1016/j.dld.2022.12.023.Epub 2023 Jan 21.

Elena Lionetti ¹, Dorina Pjetraj ¹, Simona Gatti ¹, Giulia Catassi ², Antonella Bellantoni ³, Massimo Boffardi ⁴, Mara Cananzi ⁵, Mauro Cinquetti ⁶, Ruggiero Francavilla ⁷, Basilio Malamisura ⁴, Monica Montuori ², Gianvincenzo Zuccotti ⁸, Fernanda Cristofori ⁷, Paola Gaio ⁵, Tiziana Passaro ⁴, Francesca Penagini ⁸, Alessandra Testa ⁹, Chiara Maria Trovato ¹⁰, Carlo Catassi ¹¹

Author information

• ¹Division of Pediatrics and Center for Celiac Research, DISCO Department, Marche Polytechnic University, Ancona, Italy.
• ²Pediatric Gastroenterology and Liver Unit, Department of Maternal and Child Health, Sapienza-University of Rome, Rome, Italy.
• ³Department of Pediatrics, Bianchi-Melacrino Morelli Hospital, Reggio Calabria, Italy.
• ⁴Pediatric Unit and Center for Celiac Disease - University Hospital of Salerno, Campus of Cava de' Tirreni, Italy.
• ⁵Unit of Pediatric Gastroenterology, Digestive Endoscopy, Hepatology and Care of the Child with Liver Transplantation, Dpt. of Women's and Children's Health, University Hospital of Padova, Italy.
• ⁶Department of Pediatrics, "G. Fracastoro" Hospital, AULSS9 Verona, Italy.
• ⁷Pediatric Section, Department of Interdisciplinary Medicine, University of Bari, Italy.
• ⁸Department of Pediatrics, Vittore Buzzi Children's Hospital, University of Milan, Italy.
• ⁹Clinical Biochemistry Unit, National Research Council, Reggio Calabria, Italy.
• ¹⁰Hepatology Gastroenterology and Nutrition Unit, "Bambino Gesù" Children Hospital, Rome, Italy.
• ¹¹Division of Pediatrics and Center for Celiac Research, DISCO Department, Marche Polytechnic University, Ancona, Italy. Electronic address: c.catassi@univpm.it.

Abstract

Background: Celiac disease is a common lifelong disorder. Recent studies indicate that the number of clinically detected cases has increased over the last decades, however little is known about changes in the prevalence and the detection rate of celiac disease.

Aim: To evaluate the current prevalence and detection rate of celiac disease in Italy by a multicenter, mass screening study on a large sample of school-age children.

Methods: children aged 5-11 years were screened at school by HLA-DQ2 and -DQ8 determination on a drop of blood in six Italian cities; total serum IgA and IgA anti-transglutaminase were determined in children showing HLA-DQ2 and/or -DQ8 positivity. Diagnosis of celiac disease was confirmed according to the European guidelines.

Results: 5994 children were eligible, 4438 participated and 1873 showed predisposing haplotypes (42.2%, 95% CI=40.7-43.7). The overall prevalence of celiac disease was 1.65% (95% CI, 1.34%-2.01%). Only 40% of celiac children had been diagnosed prior to the school screening. Symptoms evoking celiac disease were as common in celiac children as in controls.

Conclusion: In this multicenter study the prevalence of celiac disease in school-age Italian children was one of the highest in the world. Determination of HLA predisposing genotypes is an easy and fast first-level screening test for celiac disease. Without a mass screening strategy, 60% of celiac patients remain currently undiagnosed in Italy.