Eur J Med Genet. 2020 Sep;63(9):103999. doi: 10.1016/j.ejmg.2020.103999. Epub 2020 Jul 2.

Elisabetta Pangallo ¹, Barbara Parma ², Milena Mariani ³, Paola Cianci ³, Anita De Paoli ³, Silvia Maitz ⁴, Chiara Fossati ⁴, Roberto Panceri ⁴, Massimo Agosti ¹, Angelo Selicorni ³

Author information

• ¹Department of Pediatric, 'F. Del Ponte' Hospital, University of Insubria, Varese, Italy.
• ²Department of Pediatric, ASST-Lariana, Sant'Anna Hospital, San Fermo Della Battaglia (Como), Italy. Electronic address: barbara.parma@asst-lariana.it.
• ³Department of Pediatric, ASST-Lariana, Sant'Anna Hospital, San Fermo Della Battaglia (Como), Italy.
• ⁴Department of Pediatric, Fondazione MBMM San Gerardo Hospital, Monza, Italy.

Abstract

Celiac disease (CD) screening in patients with Williams-Beuren Syndrome (WBS) is suggested, although data described in literature are discordant regarding CD prevalence in WBS. We retrospectively collected data from 101 WBS Italian patients [mean age: 13.5 years], to clarify the CD prevalence in a large cohort. All patients underwent a CD biochemical screening: IgA and anti-transglutaminase reflex antibodies (tTGA). CD-specific HLA typing was available for 42 patients. Small intestinal biopsy was performed in patients according to ESPGHAN guidelines. In 7 WBS patients an overt celiac disease was diagnosed. In 3 patients CD was confirmed by symptoms, HLA-DQ heterodimers and CD specific antibodies title, whereas in 4 patients, it was confirmed by a small intestinal biopsy. CD prevalence in our cohort is 6.9% (7/101). In 42/101 patients the CD-specific HLA typing was available, detecting 29/42 (69%) patients genetically predisposed to CD. The CD prevalence and CD-specific HLA prevalence are both higher than in the general population (p < 0.001; p < 0.001). Our cohort is the most numerous described confirming that the CD risk in WBS patients is significantly greater than in general population. Moreover, our HLA typing results, as well as scientific literature, suggest that the higher CD prevalence in WBS patients might not be intrinsically related to the genetic disease itself but with the higher HLA prevalence. However, HLA typing should be performed in bigger WBS cohorts to confirm this hypothesis. Our data confirms that HLA typing is mandatory in WBS patients and that CD screening should be performed only if genetically predisposed.