Article Text

  1. M E Weijerman1,
  2. J Wouters1,
  3. J B Crusius2,
  4. M E von Blomberg2,
  5. C H Broers1,
  6. A M van Furth1,
  7. R B Gemke1
  1. 1Department of Pediatrics and Infectious Diseases, VU University Medical Center, Amsterdam, The Netherlands,
  2. 2Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands


Objectives: To assess the effect of a prospective screening strategy for the early diagnosis of coeliac disease (CD) in children with Down syndrome (DS).

Study Design: Blood samples were taken from 155 children with DS, as well as buccal swabs from nine of these children for the determination of HLA-DQ2 or HLA-DQ8 positivity. Independently of the IgA, anti-endomysium (EMA) and antitissue transglutaminase antibodies (TGA) were tested. An intestinal biopsy was performed to confirm CD.

Results: Sixty-three children (40.6%) were HLA-DQ2 or HLA-DQ8 positive and 91 were negative. Results of HLA-DQ typing of DNA isolated from blood and buccal swabs were identical. Eight of the positive HLA-DQ children were positive for EMA and TGA. CD was confirmed in seven of these by an intestinal biopsy and in one suggested by improvement on a gluten-free diet.

Conclusions: We found a prevalence of CD in children with DS of 5.2%, ie, 5–15 times higher than in the general population. We recommend HLA-DQ 2/8 typing from buccal swabs in the first year of life and starting serological screening the HLA-DQ-2 or DQ-8-positive children with DS at age 3 years. Early knowledge of the negative HLA-DQ2/8 status can avoid worry for CD for most children with DS.

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