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Open Access Highly Accessed Research article

Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome

Stefano Stagi1*, Elisabetta Lapi2, Maria Gabriella D’Avanzo3, Giancarlo Perferi1, Silvia Romano2, Sabrina Giglio2, Silvia Ricci1, Chiara Azzari1, Francesco Chiarelli4, Salvatore Seminara1 and Maurizio de Martino1

Author Affiliations

1 Department of Health Sciences, University of Florence, Anna Meyer Children’s University Hospital, Florence, Italy

2 Genetics and Molecular Medicine Unit, Anna Meyer Children’s University Hospital, Florence, Italy

3 Medical Genetics Unit, San Giuseppe Moscati Hospital, Avellino, Italy

4 Department of Paediatrics, University of Chieti, Chieti, Italy

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BMC Medical Genetics 2014, 15:61  doi:10.1186/1471-2350-15-61

Published: 23 May 2014



A higher prevalence of coeliac disease (CD) has been reported in patients with Williams-Beuren syndrome (WBS), though coexistence with other autoimmune diseases has not been evaluated.

Objective: The aim of this study was to examine the prevalence of the more frequent autoimmune diseases and organ- and non-organ specific autoantibodies in WBS.


We longitudinally analysed 46 WBS patients to evaluate the prevalence and co-occurrence of the major autoantibodies and HLA typing for CD diagnosis. These data were compared with healthy age- and sex-matched controls and Down (DS) and Turner (TS) syndrome patients.


CD was diagnosed in one (2.2%) WBS patient; this differed significantly from DS and TS (respectively, 10.5% and 9.4%; P < 0.005) but not from healthy controls (0.6%; P = NS). However, no patients with WBS showed anti-thyroid antibodies or other organ- and non-organ specific autoantibodies, which differed significantly from DS (respectively, 10.5% and 7.0%; P < 0.005) and TS (respectively, 9.4% and 9.3%; P < 0.005) patients but not from healthy controls (1.1% and 2.3%). The frequencies of CD-specific HLA-DQ heterodimers were not significantly higher than controls, even though the WBS patients more frequently carried the DQA1*0505 allele (57% vs. 39%; P < 0.05).


CD may not be more frequent in patients with WBS. In fact, no evidence of a significantly higher prevalence of other autoimmune diseases or positivity of the main organ and non-organ specific autoantibodies was found in WBS, such as showed in the healthy controls and unlike by the patients with Turner or Down syndrome. This should prompt us to better understand the occurrence of CD in WBS. Other studies or longer follow-up might be useful to clarify this issue.