title: Accuracy and cost-effectiveness of a new strategy to screen for celiac disease in children with Down syndrome.
abstract: OBJECTIVE
  To investigate the best approach to screen for celiac disease (CD) in patients with Down syndrome (DS).
  
  
  METHODS
  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.
authors: Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
authors: C G
authors: CG
authors: Csizmadia
authors: M L
authors: ML
authors: Mearin
authors: A
authors: A
authors: Oren
authors: A
authors: A
authors: Kromhout
authors: J B
authors: JB
authors: Crusius
authors: B M
authors: BM
authors: von Blomberg
authors: A S
authors: AS
authors: Peña
authors: M N
authors: MN
authors: Wiggers
authors: J P
authors: JP
authors: Vandenbroucke
mesh_terms: D000483:Alleles; D001284:Atrophy / Q000473:pathology; D001706:Biopsy; D002446:Celiac Disease / Q000150:complications* / Q000175:diagnosis* / Q000178:diet therapy; D002648:Child; D003362:Cost-Benefit Analysis; D004314:Down Syndrome / Q000150:complications*; D004797:Enzyme-Linked Immunosorbent Assay; D005500:Follow-Up Studies; D005983:Glutens / Q000009:adverse effects; D006683:HLA-DQ Antigens / Q000097:blood / Q000276:immunology; D006801:Humans; D017098:IgA Deficiency / Q000175:diagnosis; D007070:Immunoglobulin A / Q000097:blood; D007074:Immunoglobulin G / Q000097:blood; D007421:Intestine, Small / Q000473:pathology; D008403:Mass Screening / Q000191:economics*; D011503:Transglutaminases / Q000378:metabolism
chemical_list: D006683:HLA-DQ Antigens; D007070:Immunoglobulin A; D007074:Immunoglobulin G; D005983:Glutens; D011503:Transglutaminases