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Clinical Pediatrics
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Frequency of Celiac Disease in Individuals with Down Syndrome in the United States

Joanne Mackey, MSN, RN, CPNP

Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina

William R. Treem, MD

Department of Pediatrics, Divisions of Gastroenterology and Nutrition, Duke University Medical Center, Durham, North Carolina

Gordon Worley, MD

Department of Pediatrics, Division of Developmental Pediatrics, Duke University Medical Center, Durham, North Carolina

Anne Boney, RD, LDN

Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina

Patricia Hart

Department of Pediatrics, Divisions of Gastroenterology and Nutrition, Duke University Medical Center, Durham, North Carolina

Priya S. Kishnani, MD

Department of Pediatrics, Divisions of Medical Genetics, Duke University Medical Center, Durham, North Carolina

Ninety-three individuals with Down syndrome (DS) were screened to investigate the prevalence of celiac disease (CD) in the United States. Five of the 93 individuals were antiendomysial antibody (EMA) positive. Of the 5 who tested positive for EMA, 4 were biopsied, 1 refused biopsy. Three of the 4 individuals biopsied manifested changes of CD on small bowel biopsy. This gives a frequency of 3.2% of confirmed CD in our DS individuals and suggests the need for periodic screening for celiac disease in this population.

Clinical Pediatrics, Vol. 40, No. 5, 249-252 (2001)
DOI: 10.1177/000992280104000502
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