[Celiac disease: an update].

Abstract

Celiac disease is one of the most common lifelong autoimmune disorders and is currently understood as a genetically determined immune intolerance to gluten. In genetically predisposed individuals, the consumption of gluten, along with additional environmental factors, triggers an immunological reaction in the small intestinal epithelium, leading to the destruction of the mucosal architecture with villous atrophy. This can be asymptomatic, but may also cause a wide range of symptoms and lead to systemic complications, such as osteoporosis or infertility. The only treatment is a lifelong, strictly gluten-free diet. Despite advances in diagnostics, many cases remain unrecognized. Diagnosis is based on the serological detection of autoantibodies against tissue transglutaminase 2 (tTG-IgA) and, if necessary, a small intestinal biopsy. Population-wide screening during childhood or adolescence, as legally introduced in Italy in September 2023, could promote early detection and prevent long-term complications. For the monitoring of diagnosed patients, regular clinical check-ups and serological testing are standard practice. In cases of persistent symptoms or risk factors for ongoing villous atrophy, a follow-up duodenal histology examination is recommended. Persistent symptoms despite adherence to a gluten-free diet are often due to continued gluten exposure; however, alternative causes must also be ruled out. In cases of severe malabsorptive symptoms, the rare condition of refractory celiac disease should be considered, with management carried out in specialized centers.