Coeliac disease in Williams syndrome

A. Giannotti, G. Tiberio, M. Castro, F. Virgilii, F. Colistro, F. Ferretti, M. C. Digilio, M. Gambarara, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review


Background - Coeliac disease (CD) has been reported in several patients affected by chromosomal disorders, including Down syndrome (DS) and Turner syndrome (TS). CD has also been found in sporadic Williams syndrome (WS) patients. In this study, CD was evaluated in a consecutive series of patients with WS, in order to estimate if the prevalence of CD in WS patients is higher than in the general population. Methods and results - A consecutive series of 63 Italian patients with WS was studied by analysing the dosage of anti-gliadin antibodies (AGA) IgA and anti-endomisium antibodies (AEA). In patients with positive AGA and AEA, small bowel biopsy was performed. The prevalence of CD in our WS population was compared with that estimated in a published series of 17 201 Italian students. Seven WS patients were found to be positive for AGA IgA and AEA. Six of them underwent small bowel biopsy, which invariably disclosed villous atrophy consistent with CD. The prevalence of CD in the present series of WS patients was 9.5% (6/63), compared to 0.54% (1/184) in the Italian students (p

Original languageEnglish
Pages (from-to)767-768
Number of pages2
JournalJournal of Medical Genetics
Issue number11
Publication statusPublished - 2001


  • Coeliac disease
  • Williams syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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