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Down Syndrome Abstract
of the Month: July 2005

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Increased risk of symptomatic gallbladder disease in adults with Down syndrome.

Tyler CV Jr, Zyzanski SJ, Runser L
Am J Med Genet A. 2004 Nov 1;130(4):351-3

Fairview/Cleveland Clinic Family Practice Residency, 18200 Lorain Avenue, Cleveland, OH, USA

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Previous reports have documented an increased prevalence of asymptomatic cholelithiasis among children with Down syndrome. Whether this predisposes adults with Down syndrome to symptomatic gallbladder disease has not been studied. A case control study compared the rate of symptomatic gallbladder disease in 28 index cases of adults with Down syndrome and that of sex-matched controls. The rate of gallbladder disease was 25% among the Down syndrome group, compared to 4.5% among the control group (P = 0.002). Patients with Down syndrome were also more likely to have a family medical history of gallbladder disease. Utilizing logistic regression analysis, the adjusted relative risk for gallbladder disease among individuals with Down syndrome was 3.52.

My comments:

Two studies on children with DS have reported approximately 5 to 7% have stones in the gall bladder ("cholelithiasis"), and in all cases, were asymptomatic: no abdominal pain, nausea or vomiting. That is a bit higher than expected. So the current authors compared a group of 28 adults with DS with a control group matched for age and gender. The rate of gall bladder disease (with symptoms requiring removal of the gallbladder) was 5 times higher in the adults with DS than the control group. Patients with DS were more likely to have gall bladder disease if they were female or there was a family history of gall bladder disease. There is a suggestion that celiac disease may be a factor, but there's not enough numbers yet to confirm that.
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