Objective: Diagnostic criteria for coeliac disease (CD) from the European Society for Paediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) were published in 1990. Since then, the autoantigen in CD, tissue transglutaminase, has been identified; the perception of CD has changed from that of a rather uncommon enteropathy to a common multiorgan disease strongly dependent on the haplotypes human leukocyte antigen (HLA)-DQ2 and HLA-DQ8; and CD-specific antibody tests have improved.
Methods: A panel of 17 experts defined CD and developed new diagnostic criteria based on the Delphi process. Two groups of patients were defined with different diagnostic approaches to diagnose CD: children with symptoms suggestive of CD (group 1) and asymptomatic children at increased risk for CD (group 2). The 2004 National Institutes of Health/Agency for Healthcare Research and Quality report and a systematic literature search on antibody tests for CD in paediatric patients covering the years 2004 to 2009 was the basis for the evidence-based recommendations on CD-specific antibody testing.
Results: In group 1, the diagnosis of CD is based on symptoms, positive serology, and histology that is consistent with CD. If immunoglobulin A anti-tissue transglutaminase type 2 antibody titers are high (>10 times the upper limit of normal), then the option is to diagnose CD without duodenal biopsies by applying a strict protocol with further laboratory tests. In group 2, the diagnosis of CD is based on positive serology and histology. HLA-DQ2 and HLA-DQ8 testing is valuable because CD is unlikely if both haplotypes are negative.
Conclusions: The aim of the new guidelines was to achieve a high diagnostic accuracy and to reduce the burden for patients and their families. The performance of these guidelines in clinical practice should be evaluated prospectively.
*Hans Christian Andersen Children's Hospital at Odense University Hospital
†Division of Paediatric Gastroenterology and Hepatology, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University
‡University of Debrecen, Medical and Health Science Center
§Department of Paediatrics, Leiden University Medical Center
||University College London Medical School/Paediatrics and Child Health
¶Institute of Gastroenterology, Nutrition and Liver Diseases, Schneider Children's Medical Center of Israel, Sackler Faculty of Medicine, Tel-Aviv University
#Department of Paediatrics and European Laboratory for the Investigation of Food-Induced Diseases, University “Federico II”
**Centre for Social Policy Research, University of Bremen
††Department of Paediatrics, Hadash University Hospitals
‡‡Department of Paediatrics, Università Politecnica delle Marche
§§Medical Review Board of the Statutory Health Insurance Fund
||||Paediatric Research Centre, University of Tampere and Tampere University Hospital
¶¶La Fe University Hospital
##Department of Paediatrics, IRCCS Burlo Garofolo University of Trieste
****Department for General Paediatrics and Neonatology, Justus-Liebig University.
Address correspondence and reprint requests to Dr Steffen Husby (e-mail: firstname.lastname@example.org).
Received 1 September, 2011
Accepted 1 September, 2011
Drs Husby, Koletzko, Korponay-Szabó, Mearin, Phillips, Shamir, Troncone, and Giersiepen contributed equally to the article and are listed as first authors.
Conflict of interest statements are listed at the end of the article.