European Society Paediatric Gastroenterology, Hepatology and Nutrition Guidelines for Diagnosing Coeliac Disease 2020
Open accessAbstract
Objectives: The ESPGHAN 2012 coeliac disease (CD) diagnostic guidelines aimed to guide physicians in accurately diagnosing CD and permit omission of duodenal biopsies in selected cases. Here, an updated and expanded evidence‐based guideline is presented. Methods: Literature databases and other sources of information were searched for studies that could inform on 10 formulated questions on symptoms, serology, human leukocyte antigen genetics, and histopathology. Eligible articles were assessed using QUADAS2. GRADE provided a basis for statements and recommendations. Results: Various symptoms are suggested for case finding, with limited contribution to diagnostic accuracy. If CD is suspected, measurement of total serum IgA and IgA‐antibodies against transglutaminase 2 (TGA‐IgA) is superior to other combinations. We recommend against deamidated gliadin peptide antibodies (DGP‐IgG/IgA) for initial testing. Only if total IgA is low/undetectable, an IgG‐based test is indicated. Patients with positive results should be referred to a paediatric gastroenterologist/specialist. If TGA‐IgA is ≥10 times the upper limit of normal (10× ULN) and the family agrees, the no‐biopsy diagnosis may be applied, provided endomysial antibodies (EMA‐IgA) will test positive in a second blood sample. Human leukocyte antigen DQ2‐/DQ8 determination and symptoms are not obligatory criteria. In children with positive TGA‐IgA <10× ULN at least 4 biopsies from the distal duodenum and at least 1 from the bulb should be taken. Discordant results between TGA‐IgA and histopathology may require re‐evaluation of biopsies. Patients with no/mild histological changes (Marsh 0/I) but confirmed autoimmunity (TGA‐IgA/EMA‐IgA+) should be followed closely. Conclusions: CD diagnosis can be accurately established with or without duodenal biopsies if given recommendations are followed.
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Children with coeliac disease have traditionally been followed by paediatric gastroenterologists or paediatricians and sometimes after a period of a gluten-free diet by a dietitian.
“Children with CD have traditionally been followed by paediatric gastroenterologists or paediatricians and sometimes after a period of a GFD by a dietitian (3).”
From ESPGHAN Position Paper on Management and Follow-up of Children and Adolescents With Celiac Disease. (2022) · cites this paper as [3]
The guideline’s figure (section labeled “↑↑”; page not available in our copy) says that a paediatric gastroenterologist or paediatrician with extensive knowledge of coeliac disease should provide diagnosis and follow-up. It does not describe this as a traditional practice or say that a dietitian sometimes takes over follow-up after a period on a gluten-free diet. (LLM, conf=0.86)
Experimental — accuracy not yet measuredDue to its high negative predictive value, HLA-DQ2 and DQ8 typing is the most reliable test to select children in whom celiac disease diagnosis is extremely unlikely.
“Due to its high negative predictive value, HLA-DQ2 and DQ8 typing is the most reliable test to select those children in which the CD diagnosis is extremely unlikely (3).”
From ESPGHAN Position Paper on Management and Follow-up of Children and Adolescents With Celiac Disease. (2022) · cites this paper as [3]
The HLA recommendation (under “Prospective studies”; page unavailable) says that a child testing negative for HLA-DQ2 and DQ8 has a very low risk of coeliac disease, supporting the rule-out point. It does not call HLA typing the most reliable test for selecting such children; it says typing is unnecessary when specified other diagnostic criteria are met and that its accuracy for excluding disease depends on the method used. (LLM, conf=0.86)
Experimental — accuracy not yet measuredThe literature search was performed in PubMed or Medline for articles published in English from January 2010 to March 2020, relevant to children and adolescents (<18 years) diagnosed with coeliac disease according to ESPGHAN criteria.
“We searched in PubMed or in Medline for articles published in English from January 2010 to March 2020, relevant to children and adolescents (<18 years) diagnosed with CD according to the ESPGHAN criteria (2,3).”
From ESPGHAN Position Paper on Management and Follow-up of Children and Adolescents With Celiac Disease. (2022) · cites this paper as [3]
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- Authors
- Husby, S., Koletzko, S., Korponay‐Szabó, I., Kurppa, K., Mearin, M. L., Ribes‐Koninckx, C., Shamir, R., Troncone, R., Auricchio, R., Castillejo, G., Christensen, R., Dolinsek, J., Gillett, P., Hróbjartsson, A., Koltai, T., Maki, M., Nielsen, S. M., Popp, A., Størdal, K., Werkstetter, K., & Wessels, M.
- Affiliations
- Odense University Hospital (DK)
- LMU Klinikum (DE)
- Heim Pál National Paediatric Institute Coeliac Disease Centre, Budapest Department of Paediatrics University of Debrecen Medical Faculty Debrecen Hungary
- Tampere University (FI)
- Leiden University Medical Center (NL)
- Hospital Universitari i Politècnic La Fe (ES)
- Tel Aviv University (IL)
- University of Naples Federico II (IT)
- Frederiksberg Hospital (DK)
- Unit of Pediatric Gastroenterology and Nutrition University Medical Centre Maribor Maribor Slovenia
- Royal Hospital for Sick Children (GB)
- Tampere Centre for Child Health Research Tampere University Department of Pediatrics Tampere University Hospital Tampere Finland
- Carol Davila University of Medicine and Pharmacy (RO)
- Norwegian Institute of Public Health (NO)
- Rijnstate Hospital (NL)
- Corresponding author
- Husby, Steffen
- Troncone, Riccardo
- Auricchio, Renata
- Popp, Alina
- ORCID
- Venue
- Journal of Pediatric Gastroenterology and Nutrition
- Publisher
- Wiley
- Published
- 2020-01
- Volume
- 70
- Issue
- 1
- Pages
- 141-156
- ISSN
- 0277-2116 (ISSN-L)
- 1536-4801
- OpenAlex
- W2973568916
- Cited by
- 1,255
- References
- 98
- Citations by year
- 2026: 182 · 2025: 227 · 2024: 192 · 2023: 186 · 2022: 162 · 2021: 177 · 2020: 121 · 2019: 3 · 2018: 1
- FWCI
- 105.06
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Pediatric Gastroenterology and Nutrition (publishedVersion)
- PubMed (publishedVersion)
- Leiden Repository (Leiden University) (submittedVersion, cc-by-nc-nd)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- University of Debrecen Electronic Archive (University of Debrecen) (submittedVersion, other-oa)
- NORA - Norwegian Open Research Archives (submittedVersion, other-oa)
- University of Southern Denmark Research Portal (University of Southern Denmark) (submittedVersion, other-oa)
- Topics
- Health Sciences › Medicine › Gastroenterology › Celiac Disease Research and Management
- Health Sciences › Medicine › Surgery › Eosinophilic Esophagitis
- Life Sciences › Agricultural and Biological Sciences › Plant Science › Wheat and Barley Genetics and Pathology
- Keywords
- celiac disease, pediatric diagnosis, serological diagnosis, anti-tissue transglutaminase antibodies, anti-endomysial antibodies, deamidated gliadin peptide antibodies, duodenal biopsy, HLA-DQ2, HLA-DQ8, duodenal histopathology, Marsh classification
- MeSH terms
- Protein Glutamine gamma Glutamyltransferase 2, Autoantibodies, Biopsy, Celiac Disease, Child, Duodenum, Gastroenterology, Gliadin, HLA-DQ Antigens, Humans, Immunoglobulin A, Immunoglobulin G, Pediatrics, Transglutaminases, Practice Guidelines as Topic, GTP-Binding Proteins
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