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World J Gastroenterol. Mar 7, 2006; 12(9): 1430-1434
Published online Mar 7, 2006. doi: 10.3748/wjg.v12.i9.1430
Screening for celiac disease in Down’s syndrome patients revealed cases of subtotal villous atrophy without typical for celiFac disease HLA-DQ and tissue transglutaminase antibodies
Oivi Uibo, Kaupo Teesalu, Kaja Metsküla, Tiia Reimand, Riste Saat, Tarvo Sillat, Koit Reimand, Tiina Talvik, Raivo Uibo
Oivi Uibo, Tiina Talvik, Department of Paediatrics, University of Tartu, Tartu, Estonia
Kaupo Teesalu, Kaja Metsküla, Riste Saat, Tarvo Sillat, Koit Reimand, Raivo Uibo, Department of Immunology, University of Tartu, Tartu, Estonia
Tiia Reimand, Children’s Clinic, Tartu University Clinics, Tartu, Estonia
Supported by Estonian Science Foundation grants No. 4437 and 6514.
Correspondence to: Oivi Uibo, MD, DMSc. Department of Paediatrics, University of Tartu, 6 Lunini Street, Tartu 51014, Estonia. oivi.uibo@kliinikum.ee
Telephone: +372-7-319607 Fax: +372-7-319608
Received: March 22, 2005
Revised: May 1, 2005
Accepted: August 26, 2005
Published online: March 7, 2006

AIM: To investigate the prevalence of celiac disease (CD) as well as CD marker antibodies and susceptibility HLA-DQ haplotypes in 134 karyotyped Down’s syndrome (DS) patients.

METHODS: Immunoglobulin A (IgA) and G (IgG) type anti-gliadin antibodies (AGA), IgA type anti-tissue transglutaminase (tTG) antibodies (anti-tTG) with antigen of guinea pig and human source were determined by enzyme-linked immunosorbent assay and endomysium antibodies (EMA) by indirect immunofluoresence test. HLA-DQA1*0501/DQB1*0201 (DQ2) was revealed by polymerase chain reaction. Celiac disease was diagnosed by revised ESPGHAN criteria.

RESULTS: 41 % of DS patients had AGA, 6.0 % IgA anti-tTG with guinea pig antigen, and 3.0 % IgA EMA (all positive for anti-tTG with human tTG). Subtotal villous atrophy was found in 5 out of 9 DS patients who had agreed to small bowel biopsy. One of them had DQA1*0501/DQB1*0201 and anti-tTG and EMA i.e. typical for CD markers (this case also fulfilled the ESPGHAN diagnostic criteria), but other four lacked these markers. Three non-biopsied DS patients had also most probably CD because DQA1*0501/DQB1*0201 and IgA anti-tTG (EMA) were detected. Thus, the prevalence of CD among our DS patients population is 3.0 % (95 % of confidence interval [CI]: 0.1-5.9 %).

CONCLUSION: We confirm the increased frequency of CD among DS patients. In addition, we have revealed a subgroup of patients with subtotal villous atrophy but without characteristic for CD immunological and genetic markers. Whether these cases represent CD (with atypical immunopathogenesis) or some other immune enteropathy, requires further investigations.

Keywords: Down’s syndrome, Subtotal villous atrophy, Celiac disease, Screening, Autoantibodies, Anti-gliadin antibodies, HLA