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Researchers in Italy have shown that coeliac disease coexists with Williams syndrome, a disorder resulting from a deletion on chromosome 7q11.23. Among other features of Williams syndrome are gastrointestinal symptoms. Feeding problems, colic, vomiting, constipation, and recurring abdominal pain are common in young children. Unusually, however, coeliac disease has been noted before only sporadically in Williams syndrome, given that its presence is high—around 4–15%—in other chromosomal disorders such as Down syndrome and Turner syndrome.
Giannotti et al screened a consecutive series of 63 children (mean age 11 years) with Williams syndrome confirmed by molecular techniques for concentrations of antigliadin antibodies and antiendomisium antibodies—serological markers of coeliac disease. Coeliac disease was indicated in seven children in the series who tested positive for antigliadin and antiendomisium antibodies, and was confirmed by characteristic histological findings of villous atrophy in six who had a jejunal biopsy. All patients with confirmed coeliac disease in the series responded well to a gluten free diet.
The prevalence of coeliac disease in the series (9.6%, 6/63) was significantly higher than a published general population estimate (0.54%, 1/184) obtained from a population of more than 17 000 Italians aged 6–15 years and fell within the prevalences noted for Down and Turner syndromes.
On this basis Giannotti et al recommend antibody screening for coeliac disease in patients with Williams syndrome.
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