Accuracy and cost-effectiveness of a new strategy to screen for celiac disease in children with Down syndrome

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 lo ngitudinally. CD screening was offered in 1994, 1996, and 1999 by determina tion of serum immunoglobulin A-anti-endomysium antibodies (AEA). The HLA-DQ A1*0501/DQB1*02 allelic combination known to be strongly positively associa ted with CD was typed. All IgA-AEA-positive children were given the opportu nity to undergo a small bowel biopsy: if villous atrophy was found, the dia gnosis 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 sym ptoms was not useful in discriminating which children could have CD. Conclusions: Screening once in a lifetime is not enough to detect CD in pat ients 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 g roup.