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Diagnostic significance of HLA‐DQ typing in patients with previous coeliac disease diagnosis based on histology alone

Summary Background Coeliac disease is strongly associated with human leukocyte antigen (HLA)‐DQ2 or DQ8 genotypes. The diagnosis is based on demonstrating crypt‐hyperplastic villous atrophy, endomysial or transglutaminase antibodies and correlation of disease activity with gluten intake. Aim To eval...

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Published in:Alimentary pharmacology & therapeutics 2006-11, Vol.24 (9), p.1395-1402
Main Authors: KAPITÁNY, A., TÓTH, L., TUMPEK, J., CSÍP?, I., SIPOS, E., WOOLLEY, N., PARTANEN, J., SZEGEDI, G., OLÁH, É., SIPKA, S., KORPONAY‐SZABÓ, I. R.
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Language:English
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Summary:Summary Background Coeliac disease is strongly associated with human leukocyte antigen (HLA)‐DQ2 or DQ8 genotypes. The diagnosis is based on demonstrating crypt‐hyperplastic villous atrophy, endomysial or transglutaminase antibodies and correlation of disease activity with gluten intake. Aim To evaluate the clinical utility of HLA‐DQ typing, when coeliac disease diagnosis had previously been established solely by histology. Methods HLA‐DQ alleles, endomysial and transglutaminase antibodies were investigated and histology slides reviewed in 70 patients diagnosed 2–25 years earlier by small‐intestinal biopsy but without measuring endomysial or transglutaminase antibodies. Patients without DQ2 or DQ8 or without unequivocal villous atrophy were followed‐up on free diet by using serology and biopsies. Results All 40 endomysial/transglutaminase antibodies positive patients carried DQ2 or DQ8, and 39 of them had severe villous atrophy. Only 56% of patients without endomysial or transglutaminase antibodies positivity had DQ2 or DQ8 (P 
ISSN:0269-2813
1365-2036
DOI:10.1111/j.1365-2036.2006.03133.x