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Screening for celiac disease in Down's syndrome patients revealed cases of subtotal villous atrophy without typical for celiac disease HLA-DQ and tissue transglutaminase antibodies.
World J Gastroenterol 2006; 12(9):1430-4WJ

Abstract

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 immunofluorescence 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.

Authors+Show Affiliations

Department of Paediatrics, University of Tartu, 6 Lunini Street, Tartu 51014, Estonia. oivi.uibo@kliinikum.eeNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Evaluation Studies
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16552815

Citation

Uibo, Oivi, et al. "Screening for Celiac Disease in Down's Syndrome Patients Revealed Cases of Subtotal Villous Atrophy Without Typical for Celiac Disease HLA-DQ and Tissue Transglutaminase Antibodies." World Journal of Gastroenterology, vol. 12, no. 9, 2006, pp. 1430-4.
Uibo O, Teesalu K, Metskula K, et al. Screening for celiac disease in Down's syndrome patients revealed cases of subtotal villous atrophy without typical for celiac disease HLA-DQ and tissue transglutaminase antibodies. World J Gastroenterol. 2006;12(9):1430-4.
Uibo, O., Teesalu, K., Metskula, K., Reimand, T., Saat, R., Sillat, T., ... Uibo, R. (2006). Screening for celiac disease in Down's syndrome patients revealed cases of subtotal villous atrophy without typical for celiac disease HLA-DQ and tissue transglutaminase antibodies. World Journal of Gastroenterology, 12(9), pp. 1430-4.
Uibo O, et al. Screening for Celiac Disease in Down's Syndrome Patients Revealed Cases of Subtotal Villous Atrophy Without Typical for Celiac Disease HLA-DQ and Tissue Transglutaminase Antibodies. World J Gastroenterol. 2006 Mar 7;12(9):1430-4. PubMed PMID: 16552815.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Screening for celiac disease in Down's syndrome patients revealed cases of subtotal villous atrophy without typical for celiac disease HLA-DQ and tissue transglutaminase antibodies. AU - Uibo,Oivi, AU - Teesalu,Kaupo, AU - Metskula,Kaja, AU - Reimand,Tiia, AU - Saat,Riste, AU - Sillat,Tarvo, AU - Reimand,Koit, AU - Talvik,Tiina, AU - Uibo,Raivo, PY - 2006/3/23/pubmed PY - 2006/8/10/medline PY - 2006/3/23/entrez SP - 1430 EP - 4 JF - World journal of gastroenterology JO - World J. Gastroenterol. VL - 12 IS - 9 N2 - 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 immunofluorescence 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. SN - 1007-9327 UR - https://www.unboundmedicine.com/medline/citation/16552815/Screening_for_celiac_disease_in_Down's_syndrome_patients_revealed_cases_of_subtotal_villous_atrophy_without_typical_for_celiac_disease_HLA_DQ_and_tissue_transglutaminase_antibodies_ L2 - http://www.wjgnet.com/1007-9327/full/v12/i9/1430.htm DB - PRIME DP - Unbound Medicine ER -