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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.

Authors+Show Affiliations

Research Group of Autoimmune Diseases, Hungarian Academy of Sciences, Debrecen, Hungary.No affiliation info availableNo affiliation info availableNo 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)

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

Language

eng

PubMed ID

17059521

Citation

Kapitány, A, et al. "Diagnostic Significance of HLA-DQ Typing in Patients With Previous Coeliac Disease Diagnosis Based On Histology Alone." Alimentary Pharmacology & Therapeutics, vol. 24, no. 9, 2006, pp. 1395-402.
Kapitány A, Tóth L, Tumpek J, et al. Diagnostic significance of HLA-DQ typing in patients with previous coeliac disease diagnosis based on histology alone. Aliment Pharmacol Ther. 2006;24(9):1395-402.
Kapitány, A., Tóth, L., Tumpek, J., Csípo, I., Sipos, E., Woolley, N., ... Korponay-Szabó, I. R. (2006). Diagnostic significance of HLA-DQ typing in patients with previous coeliac disease diagnosis based on histology alone. Alimentary Pharmacology & Therapeutics, 24(9), pp. 1395-402.
Kapitány A, et al. Diagnostic Significance of HLA-DQ Typing in Patients With Previous Coeliac Disease Diagnosis Based On Histology Alone. Aliment Pharmacol Ther. 2006 Nov 1;24(9):1395-402. PubMed PMID: 17059521.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Diagnostic significance of HLA-DQ typing in patients with previous coeliac disease diagnosis based on histology alone. AU - Kapitány,A, AU - Tóth,L, AU - Tumpek,J, AU - Csípo,I, AU - Sipos,E, AU - Woolley,N, AU - Partanen,J, AU - Szegedi,G, AU - Oláh,E, AU - Sipka,S, AU - Korponay-Szabó,I R, PY - 2006/10/25/pubmed PY - 2007/5/8/medline PY - 2006/10/25/entrez SP - 1395 EP - 402 JF - Alimentary pharmacology & therapeutics JO - Aliment. Pharmacol. Ther. VL - 24 IS - 9 N2 - 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. SN - 0269-2813 UR - https://www.unboundmedicine.com/medline/citation/17059521/Diagnostic_significance_of_HLA_DQ_typing_in_patients_with_previous_coeliac_disease_diagnosis_based_on_histology_alone_ L2 - https://doi.org/10.1111/j.1365-2036.2006.03133.x DB - PRIME DP - Unbound Medicine ER -