Tags

Type your tag names separated by a space and hit enter

Limited role of HLA DQ2/8 genotyping in diagnosing coeliac disease.
Scott Med J 2017; 62(1):25-27SM

Abstract

The European guidelines for diagnosing coeliac disease in children were revised in 2012. These recommend that in symptomatic children, a diagnosis of coeliac disease can be made without small-bowel biopsies provided their anti-tissue transglutaminase (anti-tTG) titre is >10 times of upper-limit-of-normal (>10×ULN) and anti-endomysial antibody is positive. In order to firm up the diagnosis in these children with very high anti-tTG titre, HLA-DQ2/DQ8 should be checked and be positive. Approximately 25-40% of white Caucasian population has HLA-DQ2/DQ8 haplotype. However, only 0.1-1% of the population will develop coeliac disease. Therefore, HLA-DQ2/DQ8 testing must not be done to 'screen' or 'diagnose' children with coeliac disease. Its use by paediatricians should be limited to children with anti-tTG>10×ULN, where the diagnosis of coeliac disease is being made on serology alone. A review of case referrals made to a tertiary paediatric gastroenterology centre in Southwest England demonstrated that HLA-DQ2/DQ8 testing is being requested inappropriately both in primary and secondary care suggesting a poor understanding of its role in diagnosis of coeliac disease. This article aims to clarify the role of HLA-DQ2/DQ8 testing for clinicians working in non-specialist settings.

Authors+Show Affiliations

1 Consultant Paediatrician, Department of Paediatrics, Torbay Hospital, UK.2 Senior General Practitioner, Clevedon Medical Centre, Clevedon.3 Consultant in Paediatric Gastroenterology, Department of Paediatric Gastroenterology, Bristol Royal Hospital for Children, UK. 4 Honorary Professor in Paediatric Gastroenterology, Joint Centre for Child and Adolescent Health, University of Bristol and University of the West of England, UK.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28084899

Citation

Paul, Siba P., et al. "Limited Role of HLA DQ2/8 Genotyping in Diagnosing Coeliac Disease." Scottish Medical Journal, vol. 62, no. 1, 2017, pp. 25-27.
Paul SP, Hoghton M, Sandhu B. Limited role of HLA DQ2/8 genotyping in diagnosing coeliac disease. Scott Med J. 2017;62(1):25-27.
Paul, S. P., Hoghton, M., & Sandhu, B. (2017). Limited role of HLA DQ2/8 genotyping in diagnosing coeliac disease. Scottish Medical Journal, 62(1), pp. 25-27. doi:10.1177/0036933016689008.
Paul SP, Hoghton M, Sandhu B. Limited Role of HLA DQ2/8 Genotyping in Diagnosing Coeliac Disease. Scott Med J. 2017;62(1):25-27. PubMed PMID: 28084899.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Limited role of HLA DQ2/8 genotyping in diagnosing coeliac disease. AU - Paul,Siba P, AU - Hoghton,Matthew, AU - Sandhu,Bhupinder, Y1 - 2017/01/13/ PY - 2017/1/14/pubmed PY - 2017/8/9/medline PY - 2017/1/14/entrez KW - Coeliac disease KW - ESPGHAN guidelines KW - HLA-DQ2/DQ8 typing KW - children KW - inappropriate use SP - 25 EP - 27 JF - Scottish medical journal JO - Scott Med J VL - 62 IS - 1 N2 - The European guidelines for diagnosing coeliac disease in children were revised in 2012. These recommend that in symptomatic children, a diagnosis of coeliac disease can be made without small-bowel biopsies provided their anti-tissue transglutaminase (anti-tTG) titre is >10 times of upper-limit-of-normal (>10×ULN) and anti-endomysial antibody is positive. In order to firm up the diagnosis in these children with very high anti-tTG titre, HLA-DQ2/DQ8 should be checked and be positive. Approximately 25-40% of white Caucasian population has HLA-DQ2/DQ8 haplotype. However, only 0.1-1% of the population will develop coeliac disease. Therefore, HLA-DQ2/DQ8 testing must not be done to 'screen' or 'diagnose' children with coeliac disease. Its use by paediatricians should be limited to children with anti-tTG>10×ULN, where the diagnosis of coeliac disease is being made on serology alone. A review of case referrals made to a tertiary paediatric gastroenterology centre in Southwest England demonstrated that HLA-DQ2/DQ8 testing is being requested inappropriately both in primary and secondary care suggesting a poor understanding of its role in diagnosis of coeliac disease. This article aims to clarify the role of HLA-DQ2/DQ8 testing for clinicians working in non-specialist settings. SN - 0036-9330 UR - https://www.unboundmedicine.com/medline/citation/28084899/Limited_role_of_HLA_DQ2/8_genotyping_in_diagnosing_coeliac_disease_ L2 - http://journals.sagepub.com/doi/full/10.1177/0036933016689008?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -