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Down Syndrome Abstract
of the Month: Nov 1999

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Celiac Disease in Down Syndrome in the U.S.

Pueschel SM, Romano C, Failla P, Barone C, Pettinato R
Acta Paediatr 1999 Sep;88(9):953-6

Child Development Center, Rhode Island Hospital, Brown University School of Medicine, Providence, RI, USA.

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In order to estimate the prevalence of celiac disease in persons with Down syndrome, 105 patients with this chromosomal disorder residing on the East Coast of the United States of America were enrolled in this study. IgA and IgG antigliadin antibodies (AGA) were determined using a fluorescent immunoenzymatic assay, and antiendomysium antibodies (AEA) were measured with immunofluorescence on monkey esophagus. Of the 105 patients, 5 were positive for AEA, 4 were positive for IgG AGA, and 1 was positive for IgG AGA and AEA. Of the five patients with high titres of AEA, four consented to a jejunal biopsy, which revealed significant villous atrophy. Thus, 4 (possibly 5) patients in this cohort of 105 individuals with Down syndrome have celiac disease.

My comments:

There have been several studies published about the link of celiac disease and Down syndrome, all from Europe. The incidence of diagnosed celiac disease is higher in Europe than in the United States, and there has been a debate for some time as to whether this difference is a genetic/ethnic difference, or an underdiagnosing by US physicians. So the link between Down syndrome and celiac disease in the US has been affected by this debate. This is the first study to look at a possible association between celiac disease and Down syndrome in the US. However, the subjects studied were all from the East Coast of the US, where the majority of people are of European heritage, and 96 of the 105 subjects were Caucasian, so this study does not solve the question. The final percentage of 4 to 5% of the tested subjects with Down syndrome having celiac disease is consistent with previous studies; compare this to the prevalence of celiac disease in the general European population of 0.4%.

This study does reinforce the need for testing antiendomysium antibodies along with antigliadin antibodies to determine which children need biopsies to make the final diagnosis.

For more information on celiac disease and Down syndrome, see my webpage discussing celiac disease in Down syndrome.

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