Genetic testing removed from guidelines for diagnosis of CD in children

September 19, 2019

European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) revised guidelines for the diagnosis of coeliac disease in children have been published online in the JPGN. The guidelines introduce two key changes to the recommendations for a no-biopsy diagnosis for children who have high antibody levels.

The European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) have revised guidelines for the diagnosis of coeliac disease in children and these have been published online in the JPGN. The guidelines introduce two key changes to the recommendations for a no-biopsy diagnosis for children who have high antibody levels.

The first change is that genetic testing is no longer required for children with high antibody levels. Dr Peter Gillett, Consultant Paediatric Gastroenterologist and member of Coeliac UK’s Health Advisory Council (HAC) commented “We’ve shown that genetic testing doesn’t add to the diagnosis of coeliac disease in children with high antibody levels. Diagnosis can now be based on two antibody blood tests without the need for genetic testing. This will lead to cost savings for the NHS and may speed up diagnosis as we will not need to wait for the results of genetic tests.”

The second key change is that a no-biopsy approach can be offered for children who have high levels of antibodies but do not have any symptoms of coeliac disease (asymptomatic children). The decision to use this approach should be taken following a detailed discussion between the healthcare team and parents as a diagnosis of coeliac disease means starting treatment with a strict, lifelong gluten free diet.

Work will now begin to update the joint Coeliac UK and British Society for Paediatric Gastroenterology, Hepatology and Nutrition (BSPGHAN) guidelines. Dr Peter Gillett said “The BSPGHAN and Coeliac UK will be meeting next month to review the UK guidelines. This will not only involve an update to diagnosis guidelines but we will also review guidance for the management and follow up of children with coeliac disease.”

Find out more about coeliac disease in children.