Prevalence and clinical picture of celiac disease in Italian down syndrome patients: A multicenter study

Margherita Bonamico, Paolo Mariani, Helene Maria Danesi, Massimo Crisogianni, Pinella Failla, Gerolamo Gemme, Alberto Rasore Quartino, Aldo Giannotti, Massimo Castro, Fiorella Balli, Margherita Lecora, Generoso Andria, Graziella Guariso, Orazio Gabrielli, Carlo Catassi, Rosanna Lazzari, Nicoletta Ansaldi Balocco, Stefano De Virgiliis, Franco Culasso, Corrado RomanoFrancesca Ferretti, Luigi Corvaglia, Maria Serenella Scotta, Massimo Spina, Novella Rotolo, Mariella Baldassarre, Roberto Ferrari, Franco Bascietto, Franco Colistro, Maria Cristina Digilio, Luigi Memo, Livia Garavelli, Sandra Brusa

Research output: Contribution to journalArticlepeer-review


Background: A multicenter research study of Down syndrome patients was carried out to estimate the prevalence of celiac disease in patients with Down syndrome and to show clinical characteristics and laboratory data of Down syndrome patients. Methods: The authors studied 1,202 Down syndrome patients. Fifty-five celiac disease patients (group 1) were compared with 55 immunoglobulin A antigliadin-positive antiendomysium antibodies-negative patients (group 2) and with 57 immunoglobulin A antigliadin-negative antiendomysium antibodies - negative patients (group 3). Results: Celiac disease was diagnosed in 55 of 1,202 Down syndrome patients (4.6%). In group 1, weight and height percentiles were shifted to the left, whereas these parameters were normally distributed in groups 2 and 3. In celiac patients, diarrhea, vomiting, failure to thrive, anorexia, constipation, and abdominal distension were higher than in the other two groups. Low levels of hemoglobinemia, serum iron, and calcium were observed more frequently in group 1. The diagnosis of celiac disease was made after a mean period of 3.8 years from the initiation of symptoms. Sixty-nine percent of patients showed a classic presentation, 11% had atypical symptoms, and 20% had silent celiac disease. Autoimmune disorders were more frequent (30.9%) in group 1 than in the other two groups examined (15%; P <0.05). Conclusions: This study reconfirms a high prevalence of celiac disease in Down syndrome. However, the diagnostic delay, the detection of atypical symptoms or silent form in one third of the cases, and the increased incidence of autoimmune disorders suggest the need for the screening of celiac disease in all Down syndrome patients.

Original languageEnglish
Pages (from-to)139-143
Number of pages5
JournalJournal of Pediatric Gastroenterology and Nutrition
Issue number2
Publication statusPublished - 2001


  • Celiac disease
  • Down syndrome
  • Multicenter study

ASJC Scopus subject areas

  • Gastroenterology
  • Histology
  • Medicine (miscellaneous)
  • Food Science
  • Pediatrics, Perinatology, and Child Health


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