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Guidelines from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) for diagnosis and treatment of coeliac disease (CD) have not been revisited for 20 years. During this time, the perception of CD has changed from a rather uncommon enteropathy presenting in childhood, with obvious gastrointestinal symptoms, to a much more common multiorgan disease with a strong genetic predisposition (mainly associated with human leucocyte antigen (HLA)-DQ2 and HLA-DQ8). Previous ESPGHAN diagnostic criteria1 stated that histological confirmation of the typical changes of CD in the small intestine were mandatory for diagnosis and that a gluten challenge, and rebiopsy would need to be performed in those children under the age of 2 years diagnosed as having CD.
Since that time, largely because of the increasing availability of specific serological testing, it has become clear that CD may present with a large variety of non-specific signs and symptoms, rather than a specific gastrointestinal presentation.
In addition, certain individuals are at an increased risk and presymptomatic screening is advised, although individuals who screen negatively may subsequently screen positively. Diagnosis can be made at any age but it is clear that it is important to diagnose CD in children with obvious gastrointestinal symptoms and in children with a less clear clinical picture, as the disease may have negative health consequences in the longer term. Since the previous ESPGHAN criteria, serological tests with high accuracy have become available, as well as other diagnostic tests that, in conjunction with …
Competing interests None.
Provenance and peer review Commissioned; internally peer reviewed.