title: Adaptive diagnosis of coeliac disease.
abstract: Coeliac disease has for a long time simply been regarded as a gluten-dependent enteropathy and a duodenal biopsy was required in all patients for the diagnosis. It is now accepted that autoimmunity against transglutaminase 2 is an earlier, more universal and more specific feature of coeliac disease than histologic lesions. Moreover, high serum levels of combined anti-transglutaminase 2 and anti-endomysium antibody positivity have excellent predictive value for the presence of enteropathy with villous atrophy. This makes the histology evaluation of the gut no longer necessary in well defined symptomatic paediatric patients with compatible HLA-DQ2 and/or DQ8 background. The biopsy-sparing diagnostic route is not yet recommended by gastroenterologists for adults, and certain clinical circumstances (immunodeficiency conditions, extraintestinal manifestations, type-1 diabetes mellitus, age less than 2 years) may require modified diagnostic approaches. Coeliac patients with preserved duodenal villous structure do exist and these need a more extended evaluation by immunologic and molecular biology tools.
authors.affiliation: Department of Paediatrics, University of Debrecen Medical School, Nagyerdei krt 98, Debrecen 4032, Hungary; Coeliac Disease Centre, Heim Pál Children's Hospital, Üllöi út 86, Budapest 1089, Hungary. Electronic address: Ilma.Korponay-Szabo@uta.fi.
authors.forename: Ilma R
authors.initials: IR
authors.lastname: Korponay-Szabó
authors.affiliation: University of Naples Federico II, Department of Medical Translational Sciences, Section of Pediatrics, Via Sergio Pansini 5, 80131 Napoli, Italy.
authors.forename: Riccardo
authors.initials: R
authors.lastname: Troncone
authors.affiliation: University of Naples Federico II, Department of Medical Translational Sciences, Section of Pediatrics, Via Sergio Pansini 5, 80131 Napoli, Italy; University of Chicago, Department of Medicine and the University of Chicago Celiac Disease Center, Chicago 900 E 57th Street, 60615 Chicago, IL, USA.
authors.forename: Valentina
authors.initials: V
authors.lastname: Discepolo
mesh_terms: D001323:Autoantibodies / Q000097:blood*; D001324:Autoantigens / Q000276:immunology; D001706:Biopsy; D002446:Celiac Disease / Q000175:diagnosis* / Q000276:immunology; D019204:GTP-Binding Proteins / Q000276:immunology*; D006801:Humans; D000091345:Protein Glutamine gamma Glutamyltransferase 2; D011503:Transglutaminases / Q000276:immunology*
chemical_list: D001323:Autoantibodies; D001324:Autoantigens; D000091345:Protein Glutamine gamma Glutamyltransferase 2; D011503:Transglutaminases; D019204:GTP-Binding Proteins
keywords: Anti-deamidated gliadin peptide antibodies; Anti-endomysium antibodies; Anti-transglutaminase antibodies; Biopsy-sparing; Coeliac autoimmunity; Coeliac disease; Dermatitis herpetiformis; Diagnostic algorhytm; Gluten challenge; Selective immunoglobulin A deficiency; Type-1 diabetes mellitus; Villous atrophy