IBD, Crohn's disease, ulcerative colitis
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Results of a collaborative study between the Francis Crick Institute, London, and Aalborg University in Copenhagen have shown that there are measurable markers in the blood that can be detected up to eight years before a diagnosis of an inflammatory bowel disease (IBD). The researchers say their findings show that the earliest stages of an IBD happen well in advance of symptoms, information that could eventually provide a window for doctors and patients to take preventative action, or to begin a treatment regimen very early in disease development when it would be most effective.

“This has huge implications for prevention as it highlights that there’s a window of opportunity for treatment. We don’t yet know whether preventative measures like changing diet or stopping smoking would stop someone getting these diseases, but this opens the door to that possibility,” said James Lee, PhD, group leader of the Genetic Mechanisms of Disease Laboratory at the Crick.

IBD is a collective term for two distinct diseases: Crohn’s disease and ulcerative colitis. Both are chronic conditions that are characterized by sometimes severe inflammation in the gastrointestinal tract resulting in abdominal pain and diarrhea. Early diagnosis and correctly diagnosing either Crohn’s disease or ulcerative colitis are important to improving outcomes, as well as making sure patients receive the correct treatments as they vary depending on which IBD a patient has.

In this retrospective study, published in the journal Cell Reports Medicine, the researchers queried the electronic medical records comparing 20,000 people diagnosed with an IBD with controls of more than 4.6 million without either condition. While previous thinking has shown that most people have symptoms for a year before they receive a diagnosis, the level of damage seen in the intestinal tract of these patients indicates that damage has been occurring for much longer.

In their analysis of ten years of test results before patients were diagnosed with an IBD, the researchers were able to confirm this hypothesis. Changes in the blood include a series of minerals, cells, and markers of inflammation including fecal calprotectin which is released into the blood during inflammation and is currently used to determine which patients with symptoms require follow-up examinations. The changes were observed up to eight years before a Crohn’s disease diagnosis and three years prior to a positive diagnosis of ulcerative colitis.

The team noted that prior to this research the small changes revealed in these levels would have been within normal ranges in standard blood tests and wouldn’t have been identified as something requiring additional investigation. The investigators noted that they were only able to confirm these subtle changes as markers of disease due to the large size of the data set used in the study.

“So many young people are affected by IBD. Their lives, hopes, and aspirations for the future are turned upside down by a diagnosis and trying to live with a chronic disease,” said first author Marie Vestergaard, a PhD candidate at the Center for Molecular Prediction of Inflammatory Bowel Disease, PREDICT, at Aalborg University. “I am happy that our research might help predict who could potentially suffer from IBD and thus start treatment earlier which would greatly improve their quality of life.”

The team noted that the next steps needed to leverage these new findings include investigating whether providing treatment or prevention measures before the onset of symptoms has a positive impact, as well as additional research to determine whether the predictive value of this research can be further strengthened for earlier diagnosis of an IBD.

“Our findings are novel and go hand-in-hand with emerging evidence that chronic inflammatory bowel diseases likely have their onset years prior to diagnosis. These incurable diseases affect young individuals and are twice as common as type 1 diabetes,” noted Tine Jess, MD, DMSC, director at the Center for Molecular Prediction of Inflammatory Bowel Disease, PREDICT, at Aalborg University. “Understanding the exact mechanisms behind their development is essential to ultimately prevent the diseases from occurring.”

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