BACKGROUND: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.

Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome / Stefano Stagi; Elisabetta Lapi; Maria Gabriella D’Avanzo; Giancarlo Perferi; Silvia Romano; Sabrina Giglio; Silvia Ricci; Chiara Azzari; Francesco Chiarelli; Salvatore Seminara; Maurizio de Martino. - In: BMC MEDICAL GENETICS. - ISSN 1471-2350. - ELETTRONICO. - 15:(2014), pp. 61-66. [10.1186/1471-2350-15-61]

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

GIGLIO, SABRINA RITA;Silvia Ricci;AZZARI, CHIARA;SEMINARA, SALVATORE;DE MARTINO, MAURIZIO
2014

Abstract

BACKGROUND: 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. METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.
2014
15
61
66
Stefano Stagi; Elisabetta Lapi; Maria Gabriella D’Avanzo; Giancarlo Perferi; Silvia Romano; Sabrina Giglio; Silvia Ricci; Chiara Azzari; Francesco Chiarelli; Salvatore Seminara; Maurizio de Martino
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/970830
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