Diagnostic significance of HLA-DQ typing in patients with previous coeliac disease diagnosis based on histology alone.
Aliment Pharmacol Ther 2006; 24(9):1395-402AP

Abstract

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 < 0.001). Seropositivity and relapse developed in 4 of 11 DQ2 positive but in none of 15 DQ2 and DQ8 negative patients on long-term gluten exposure.

CONCLUSIONS

Coeliac disease diagnosis based solely on histology is not always reliable. HLA-DQ typing is important in identifying DQ2 and DQ8 negative subjects who need revision of their diagnosis, but it does not have additive diagnostic value if endomysial positivity is already known.

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    Authors+Show Affiliations

    Kapitány A
    Research Group of Autoimmune Diseases, Hungarian Academy of Sciences, Debrecen, Hungary.
    Tóth L
    No affiliation info available
    Tumpek J
    No affiliation info available
    Csípo I
    No affiliation info available
    Sipos E
    No affiliation info available
    Woolley N
    No affiliation info available
    Partanen J
    No affiliation info available
    Szegedi G
    No affiliation info available
    Oláh E
    No affiliation info available
    Sipka S
    No affiliation info available
    Korponay-Szabó IR
    No affiliation info available

    MeSH

    AdolescentAdultCeliac DiseaseChildChild, PreschoolGenetic Predisposition to DiseaseHLA-DQ AntigensHistocompatibility TestingHumans

    Pub Type(s)

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

    Language

    eng

    PubMed ID

    17059521