title: Diagnosing coeliac disease and the potential for serological markers.
abstract: The diagnosis of coeliac disease has advanced in the past decade owing to increased clinical awareness and improved tests. Coeliac disease is now regarded as a common disease presenting at any age with a broad spectrum of symptoms. Previous guidelines on diagnosis relied on the histological analysis of duodenal biopsy samples. However, contemporary antibody analysis is a diagnostic tool with a comparatively high accuracy that has reduced reliance on performing biopsies. Furthermore, determination of HLA-based genetic susceptibility to coeliac disease has become routine. European and North American guidelines utilize symptoms, coeliac antibodies (primarily tissue transglutaminase 2 IgA and endomysial IgA antibodies), HLA determination and histological analysis of biopsy tissue for diagnosis. Some guidelines conclude that the diagnostic accuracy of tissue transglutaminase 2 IgA antibodies is sufficient to omit duodenal biopsies in selected children with very high antibody levels, in the presence of clear symptom response as well as a positive endomysial antibody test and confirmation of genetic susceptibility. This Review discusses if such a strategy is appropriate for children and adults in all populations. The performance characteristics of antibody tests (particularly of the tissue transglutaminase 2 IgA test) including quality control and characterisation of the population in whom testing is performed are also discussed.
authors.affiliation: Hans Christian Andersen Children's Hospital, Odense University Hospital, 29 Southern Boulevard, DK-5000 Odense C, Denmark.
authors.forename: Steffen
authors.initials: S
authors.lastname: Husby
authors.affiliation: Division of Gastroenterology and Hepatology, Mayo Clinic, 200 1st Street South West, Rochester, MN 55905, USA.
authors.forename: Joseph A
authors.initials: JA
authors.lastname: Murray
mesh_terms: D001323:Autoantibodies / Q000097:blood / Q000276:immunology; D015415:Biomarkers / Q000097:blood; D001706:Biopsy; D002432:Cecum / Q000276:immunology; D002446:Celiac Disease / Q000097:blood / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology / Q000473:pathology; D004386:Duodenum / Q000473:pathology; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006680:HLA Antigens / Q000276:immunology; D006801:Humans; D000091345:Protein Glutamine gamma Glutamyltransferase 2
chemical_list: D001323:Autoantibodies; D015415:Biomarkers; D006680:HLA Antigens; C000717608:TGM2 protein, human; D000091345:Protein Glutamine gamma Glutamyltransferase 2