Accuracy and cost-effectiveness of a new strategy to screen for celiac disease in children with Down syndrome.
Csizmadia, Cassandra G. D. S. MD; Mearin, M. Luisa MD, PhD; Oren, Anath MD; Kromhout, Adrie; Crusius, J. Bart A. BSci, Biol; von Blomberg, B. Mary E. PhD; Pena, A. Salvador MD, PhD; Wiggers, Marije N. L. MD; Vandenbroucke, Jan P. MD, PhD
[Article] Journal of Pediatrics. 137(6):756-761, December 2000.

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Objectives: To investigate the best approach to screen for celiac disease (CD) in patients with Down syndrome (DS).

Study design: One hundred thirty-seven children with DS were followed up longitudinally. CD screening was offered in 1994, 1996, and 1999 by determination of serum immunoglobulin A-anti-endomysium antibodies (AEA). The HLA-DQA1*0501/DQB1*02 allelic combination known to be strongly positively associated with CD was typed. All IgA-AEA-positive children were given the opportunity to undergo a small bowel biopsy: if villous atrophy was found, the diagnosis of CD was established.

Results: CD was diagnosed in 11 (8%) children: 8 in 1994 and 3 in 1996. All of them carried the HLA-DQ alleles associated with CD. The presence of symptoms was not useful in discriminating which children could have CD.

Conclusions: Screening once in a lifetime is not enough to detect CD in patients with DS. We propose a new, accurate, and cost-sparing 2-step strategy for screening, based on selection of the individuals with potential CD by HLA-DQ typing and on longitudinal serologic CD screening in this selected group. (J Pediatr 2000;137:756-61)

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