Human CAZyme genes polymorphism and risk of IBS: a population-based study

A series of papers in Gut recently highlighted genetic variation in the sucrase-isomaltase gene (SI; coding for a brush-border disaccharidase) as a likely causative factor in a subset of patients with irritable bowel syndrome (IBS).1–4 Hypomorphic (dysfunctional) SI variants may thus underlie gastrointestinal symptoms in rare recessive forms of congenital SI deficiency (CSID)5 as well as milder complex (IBS) manifestations,6 across a broad spectrum of genetic SI deficiencies (GSID) that vary in severity and onset of presentation.7 Moreover, SI carrier status has been shown to also affect the response to specific carbohydrate-focused diets, thus providing a rationale for personalising (dietary) therapeutic strategies in IBS.1 8 Together with SI, a number of human Carbohydrate-Active enZymes (hCAZymes, www.cazy.org/e355.html) are involved in the breakdown of polysaccharides during the process of carbohydrate digestion,…

Leggi
Gennaio 2025

Recent advances in clinical practice: mastering the challenge–managing IBS symptoms in IBD

Many patients with IBD report persisting symptoms, despite resolution of the inflammatory process. Although by definition, a diagnosis of IBS cannot be made, the prevalence of ‘IBS in IBD’ surpasses the rate of IBS in the global population by fivefold. Because IBS-like symptoms are associated with a decreased quality of life and increased healthcare utilisation in IBD, diagnosis and treatment are necessary. In this review, we summarise the current knowledge on IBS-like symptoms in IBD. A pathophysiological common ground is present, which includes genetic susceptibility, environmental triggers, gut microbial dysbiosis, increased intestinal permeability, visceral hypersensitivity and involvement of brain–gut interaction. When symptoms persist after resolution of inflammation, other GI diseases should be excluded based on the chief complaint, considering any possible psychological co-morbidity early in the diagnostic work-up. Subsequent treatment should be initiated that is evidence-based and often multimodal, including classical and non-classical pharmacological agents as well as lifestyle and microbiota-based approaches, spanning the breadth of the gut, brain and its interaction. Treatment goals in this substantial part of the IBD population should be adapted to not only focus on treating the inflammation but taking care of the patient.

Leggi
Gennaio 2025