According to one estimation in Australia, around 80% of people with the condition go undiagnosed despite the real health risks of untreated disease such as damage to the small bowel, an increased risk of some cancers, ongoing irritable bowel syndrome-like symptoms, lower bone density and nutritional deficiencies.
Reasons, why there are poor diagnosis rates in patients are complicated. One problem is the condition characterized by small intestinal enteropathy and triggered by gluten exposure, which may present in ranging degrees of severity and in many different guises, across the entire age spectrum. Some people with coeliac disease may have underlying issues related to the condition, although they may remain asymptomatic.
Lack of clear, evidence-based guidance, especially for GPs is another problem. However, this gap may be a bridge with the effort of Narrative Review published in the MJA.
In their review, a Professor of Anatomical Pathology Marjorie Walker at the University of Newcastle including her two clinician associates lay out the latest evidence on the diagnosis methods, epidemiology, follow-up and management of patients, clinical presentation with the autoimmune disease that affects about 1.5% of the Australian population.
PODCAST: Professor Marjorie Walker
A gastroenterologist in Royal Melbourne Hospital and head of the Coeliac Disease Research Laboratory at the Walter and Eliza Hall Institute, Dr. Jason Tye-Din welcomed the new review and recommended biopsy and serology diagnosis in high risk and symptomatic people in additional with genetic testing in doubtful cases.
Dr. Tye-Din report to MJA InSight that this is an exceptional review, and it’s especially timely. Something GPs in Australia needs an outline of some issues, and the way diagnosis and management should be undertaken including a strong evidence-based document to bring coeliac disease to the fore. There’s been a genuine need for some quality, evidence-based direction. How to increase diagnosis rates and who to screen for coeliac disease is one of the critical issues in the field right now says Dr. Tye-Din
We don’t have an efficient way of detecting everyone short of population screening so what we should be done about low diagnosis rates is the crux of the matter says Dr. Tye-Din.
We do have a comparatively simple blood test because coeliac disease ticks a lot of the boxes for population screening. But what’s lacking is the people who wouldn’t otherwise come to clinical attention and the knowledge of the real history of the disease in people who are asymptomatic. Do they benefit from treatment or is it right to screen those people? We think the correct answer is that they do, but we need more data on that.
Dr. Tye-Din stated that he’d encourage more active case finding for the time being. He said GPs should be careful of people with a family history of coeliac disease, unexplained gastrointestinal symptoms, lethargy, irritable bowel syndrome, and unexplained weight loss and nutrient deficiencies.
Environmental triggers
Coeliac disease has a significant genetic component as with several other autoimmune conditions. There is an 80% concordance in identical twins, which means the genetic influence is apparent, environmental triggers must also play a part. Dr. Tye-Din told MJA InSight that some population studies uncover some environmental factors connected with the coeliac disease. One is having had a rotavirus infection in childhood, caesarean section during birth and another is being raised in high hygiene environment and high socio-economic. There have been some interesting studies going on there and trying to flesh out what’s becoming apparent about the microbiome. There is no clear data that people with coeliac disease have altered microbiomes.
Dr. Tye-Din said him and his colleagues had been involved in research that supports this hypothesis that these alterations are an important factor in driving onset of the disease rather than merely a consequence of the disease. We have revealed that the way gluten is metabolized in the body is affected by some of the bacteria involved in the alterations. We are starting to appreciate that all these environmental factors we’re selecting in this epidemiological investigations are probably affecting the microbiome, which changes the way the immune system learns to exhibit normal tolerance to gluten.
New avenues in delaying or preventing the onset of the disease could potentially open up with these discoveries. Dr. Tye-Din said there were trials underway in Europe to see if they could reduce risk by preventing dysbiosis when they study at the use of probiotics in patients at high risk of contracting a coeliac disease.
There is a likelihood that faecal transplants may have an important role to play. Dutch gastroenterologists wrote a case history of a patient with a refractory coeliac condition who was managed with a faecal transplantation for a Clostridium difficile infection. The patient coeliac symptoms disappeared after a full recovery of duodenal villi.
Australia has been leading the way for research into new potential therapies for coeliac disease says Dr. Tye-Din. An Australian company has brought a new enzyme pill to the market, although its makers say it is not a replacement for a gluten-free diet. In the same time, a vaccine trialled in Melbourne has to reveal promise in phase 1 trials, with phase 2 research starting soon.
Hookworm infection to improve immune tolerance to gluten is work on by a group in Brisbane. Dr. Tye-Din says gluten-free diet remains the mainstay treatment of coeliac disease despite these impressive new research paths and is likely to be so for the foreseeable future.
