Better diagnosis, prevention and treatment of irritable bowel syndrome
Irritable bowel syndrome (IBS) affects over 60 million Europeans, yet many patients face delays and inaccuracies in diagnosis and treatment. This is often due to gaps in our knowledge about underlying causes, and how IBS interacts with other health conditions, known as comorbidities.
IBS and mental health disorders
Recognising these unmet needs, the EU-funded DISCOvERIE(opens in new window) project was launched to better understand the origins of this disorder. A particular focus was on the common association with mental health disorders such as depression and anxiety, as well as physical conditions such as fibromyalgia and chronic fatigue syndrome. This project was coordinated by Javier Santos, gastroenterologist and Josep Antoni Ramos-Quiroga, psychiatrist, both at Vall d’Hebron Institut de Recerca (VHIR)(opens in new window). “Our belief was that the components of the brain-gut axis (including the intestinal microbiota, the gut-associated nervous, endocrine and immune systems, and brain responses) could play a major role in the generation of symptoms,” says Santos. “We wanted to identify biological markers – or biomarkers – that could help diagnose IBS subtypes more accurately, enabling earlier diagnosis and personalised treatments.” Additional goals included the development of clinical guidelines that consider sex-based individual differences, with the aim of enhancing patient outcomes while reducing healthcare costs.
Comprehensive analysis of IBS factors
DISCOvERIE brought together a multidisciplinary team of experts in neurogastroenterology, psychiatry, immunology and technology, and worked with innovative companies. Despite challenges posed by the COVID-19 pandemic, the team successfully recruited over 800 participants, including IBS patients with and without the selected mental and somatic comorbidities, and healthy controls. This large, diverse cohort allowed for comprehensive analysis of biological, psychological and environmental factors influencing IBS. The project was able to collect biological samples (blood, faeces, urine and colonic biopsies) to study intestinal barrier function, microbiota composition, and nervous and immune responses in the periphery and the brain. Findings on intestinal permeability for example revealed subtle differences in gut barrier integrity among IBS patients. “We also used animal models to simulate early-life disruptions in gut health to understand how these might influence brain inflammation and anxiety,” explains Santos. “This helped to shed light on the gut-brain connection. Additionally, digital health tools like smartphones and wearables were used to monitor symptoms, stress, sleep and activity in real time, providing insights into how psychosocial and environmental factors trigger symptom fluctuations and disease diversity.”
Tailored treatments for individual patients
DISCOvERIE has made progress in several areas. Biomarker signatures to differentiate between IBS subtypes and associated conditions were developed, along with an enzyme-linked immunosorbent assay (ELISA). This simple, non-invasive technique can facilitate diagnosis in clinical practice and is now commercially available. “Analyses of microbiome and immune markers suggest potential sex-related patterns linked to IBS and its comorbidities, contributing to a better understanding of disease mechanisms,” notes Santos. “The project also formulated recommendations for clinical guidelines that consider sex- and age-specific aspects, with the aim of advancing toward more personalised care.” Future efforts will focus on integrating validated biomarkers into routine clinical practice across Europe. The establishment of a European Reference Network called COIBSnet(opens in new window) will connect healthcare providers, ensuring access to multidisciplinary expertise for complex cases. “Further research will aim to refine diagnostic tools, develop targeted therapies, and explore how the microbiota and immune system influence disease progression,” says Santos. “Translating research findings into updated, personalised clinical guidelines can lead to tailored treatments for individual patient profiles.”
