The European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) has today issued new guidance to physicians on the diagnosis of coeliac disease in children recommending the no-biopsy approach at diagnosis for the majority of children suspected of having the disease.

This new guidance aims to help tackle the underdiagnosis of coeliac disease caused by the varied presentation of clinical signs and symptoms, and help guide physicians on the diagnosis of the condition, particularly to reduce the number of biopsies performed on children suspected of having coeliac disease.

Currently, around half of children with suspected coeliac disease undergo a biopsy to confirm their diagnosis but rather than invasive and distressing endoscopy, experts are now recommending that children undergo a two-stage blood test to establish a diagnosis of coeliac disease that would mean the majority who currently have one, would no longer require a biopsy.

The new advice for clinicians comes as an update to the 2012 guidance published by the society and bring the original guidelines up-to-date; providing an evidenced-based guideline that, wherever possible, enables accurate serology-based diagnosis without the need for biopsy.

The new guidance, published in the Journal of Pediatric Gastroenterology and Nutrition, could save millions of euros in direct healthcare costs each year as biopsies on children, and the required general anaesthetic to perform them, cost around €1,000 per patient.

The new guidelines recommend that:

  • Testing for specific antibodies should be performed as initial screening in children with suspected coeliac disease
  • Asymptomatic children can be diagnosed without the need for a biopsy, using the same criteria as in patients with symptoms
  • The decision on whether to perform a diagnostic biopsy should be made as a shared decision between clinicians and parents, and where appropriate, with the child too

Coeliac disease affects one in every 100 children in the majority of European countries and, in some countries, it can occur as frequently as three in every 100. It is a life-long autoimmune condition, caused by an abnormal reaction to gluten – a protein found in wheat, barley and rye – grains that are very common in the European diet. It can occur at any age, including in babies when weaning once gluten has been introduced to their diet, in children and in adolescence. Currently, the only treatment for coeliac disease is strict compliance to a gluten-free diet.

Coeliac disease is the most common food-related chronic disease among children in Europe, yet experts now believe that up to 80 per cent of cases are undiagnosed. With rising prevalence, undiagnosed coeliac disease leaves a large population at risk of nutritional and developmental problems and long-term associated health complications. Despite being easy to detect and treat, diagnostic delays can often reach 10-to-13 years from the first symptoms. The new guidelines are therefore aimed at making diagnosis as easy and accurate as possible, to help enable earlier diagnosis and higher detection rates.

Commenting, Luisa Mearin, Secretary of the Coeliac Disease Working Group and senior author of the new guidelines, said, ‘These new guidelines mean that more than half of all children being investigated for coeliac disease will no longer need to have an invasive biopsy. This is a big step forward in our mission to ensure that children can be diagnosed and effectively treated for coeliac disease. It is scandalous that so many children go so long, often up to 10 years, without diagnosis. Removing the need for biopsy in order to achieve diagnosis will reduce the stresses associated with such an invasive procedure and mean that diagnoses are quicker and cheaper for healthcare systems.’

ESPGHAN has also published an abridged, patient-friendly guide, which is available at www.espghan.info/advice-guides.