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.
OBJECTIVE
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%).


CONCLUSIONS
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.
Department of Paediatrics, University of Tartu, 6 Lunini Street, Tartu 51014, Estonia. oivi.uibo@kliinikum.ee
Oivi
O
Uibo
Kaupo
K
Teesalu
Kaja
K
Metskula
Tiia
T
Reimand
Riste
R
Saat
Tarvo
T
Sillat
Koit
K
Reimand
Tiina
T
Talvik
Raivo
R
Uibo
D000293:Adolescent; D000328:Adult; D001284:Atrophy; D001323:Autoantibodies / Q000032:analysis*; D002432:Cecum / Q000276:immunology* / Q000473:pathology*; D002446:Celiac Disease / Q000150:complications / Q000175:diagnosis* / Q000276:immunology*; D002648:Child; D002675:Child, Preschool; D004314:Down Syndrome / Q000150:complications*; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005820:Genetic Testing; D006683:HLA-DQ Antigens / Q000032:analysis* / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011503:Transglutaminases / Q000276:immunology*
D001323:Autoantibodies; D006683:HLA-DQ Antigens; D011503:Transglutaminases