title: Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome.
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.
authors.affiliation: Department of Health Sciences, University of Florence, Anna Meyer Children's University Hospital, Florence, Italy. stefano.stagi@yahoo.it.
authors.forename: Stefano
authors.initials: S
authors.lastname: Stagi
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Lapi
authors.forename: Maria Gabriella
authors.initials: MG
authors.lastname: D'Avanzo
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Perferi
authors.forename: Silvia
authors.initials: S
authors.lastname: Romano
authors.forename: Sabrina
authors.initials: S
authors.lastname: Giglio
authors.forename: Silvia
authors.initials: S
authors.lastname: Ricci
authors.forename: Chiara
authors.initials: C
authors.lastname: Azzari
authors.forename: Francesco
authors.initials: F
authors.lastname: Chiarelli
authors.forename: Salvatore
authors.initials: S
authors.lastname: Seminara
authors.forename: Maurizio
authors.initials: M
authors.lastname: de Martino
mesh_terms: D000293:Adolescent; D001323:Autoantibodies / Q000276:immunology; D001327:Autoimmune Diseases / Q000209:etiology*; D002446:Celiac Disease / Q000209:etiology*; D002648:Child; D004314:Down Syndrome / Q000150:complications; D005260:Female; D006684:HLA-DR Antigens / Q000276:immunology; D006801:Humans; D008297:Male; D015995:Prevalence; D012306:Risk; D018980:Williams Syndrome / Q000150:complications* / Q000276:immunology*; D055815:Young Adult
chemical_list: D001323:Autoantibodies; D006684:HLA-DR Antigens