The Future of Coeliac Disease Diagnosis and Treatment Part One – Diagnosis

15 April 2024

The Future of Coeliac Disease Diagnosis and Treatment Part One – Diagnosis

We recently introduced Glutafin dietitian, Katie Kennedy, who told us about her important work with the company. In the next two articles, we speak to Katie again about how she sees the future for Coeliac disease diagnosis and treatment.

Currently, coeliac disease diagnosis is achieved using a combination of blood tests and a biopsy of the intestine. However, this can be problematic, especially for people with severe symptoms, as Katie explains…

What is the biggest issue in coeliac disease diagnosis?

One of the most pressing issues relating to coeliac disease is underdiagnosis. There are estimated to be half a million people in the UK who are living with undiagnosed coeliac disease. For me, research that hopes to improve and speed up diagnosis is definitely the most exciting.

What barriers are preventing these people from receiving a diagnosis?

One significant barrier to obtaining an accurate coeliac disease diagnosis is the fact that patients must regularly consume gluten for at least 6 weeks prior to testing. This is necessary for the blood markers of coeliac disease to be present, but also for the inflammation of the small intestine to be visible during any camera investigations (endoscopy). For many people, particularly those with severe symptoms, this requirement to eat gluten causes significant stress and suffering.

What research is happening in this field?

Recent research led by Dr Liz Soilleux from the University of Cambridge hopes to identify a way in which coeliac disease can be diagnosed without the need to reintroduce or continue to consume gluten. Although most of the inflammation of the small intestine disappears on a gluten free diet, it is now understood that there is a permanent change to some of the body’s immune cells.

Dr Soilleux’s research has looked at the DNA of these cells and, using an artificial intelligence (AI) algorithm, classifies people with and without coeliac disease. Importantly, the algorithm is able to identify people with coeliac disease who have been on a gluten free diet for at least six months.

This research offers huge hope for people who may be experiencing the symptoms of coeliac disease, but who are unable to get an accurate diagnosis, having already reduced or removed gluten from their diet.

What other roles could AI play in coeliac disease diagnosis?

AI could hugely improve the accuracy and consistency of coeliac disease diagnosis. A team of mathematicians and pathologists from the Universities of Cambridge and Oxford are currently working on developing an AI solution to achieve this.

In most cases, an endoscopy and biopsy of the small intestine is still needed to accurately diagnose coeliac disease. Biopsy samples must be examined in a laboratory by a highly trained pathologist. However this process is extremely time consuming and costly, and it can be inconclusive. In as many as 25% of cases, pathologists may disagree on whether a biopsy sample shows evidence of coeliac disease.

By accessing a bank of thousands of previous biopsy samples, the research team will develop an AI algorithm that can classify biopsies as either diseased or normal, with a much higher level of certainty than the human eye. This automation of the diagnostic process will speed up diagnosis and save vital NHS resources.

Would population screening be an effective or cost-effective way to improve coeliac disease diagnosis rates?

Over the years, there have been many calls for population-based screening for coeliac disease. This would certainly ensure early identification of people with the condition and help to reduce the risk of long-term health complications arising from delayed treatment.

However, some clinicians argue that screening is too costly and may also identify people who don’t have many or any symptoms of the disease, and who may find the burden of following a restricted diet too challenging for a variety of health, social and psychological reasons.

In September 2023, the Italian Parliament voted to introduce a nationwide screening for type 1 diabetes and coeliac disease in the general population aged 1–17 years. This is the first screening programme of its kind and it will be watched closely by other countries around the world.

In part two of this interview, we will be talking to Glutafin dietitian, Katie about what the future might hold for coeliac disease treatments. Meanwhile, if you’re suffering from coeliac symptoms, or have been diagnosed with coeliac disease, visit the Glutafin website today for loads of free, friendly advice and support from Katie and her team.

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