Identifying the hidden burden of gastrointestinal and nutritional disorders in children with Fabry disease: a systematic review with meta-analysis

This systematic review and meta-analysis aims to evaluate the gastrointestinal and nutritional manifestations of Fabry disease in children. Fabry disease is a rare X-linked lysosomal disorder that often presents in childhood with non-specific gastrointestinal symptoms such as abdominal pain, diarrhea, and constipation. An analysis of 18 studies involving 736 patients showed that 53% children have gastrointestinal symptoms, with abdominal pain occurring in 46%. The average age of symptom onset is 8.5 years, with diagnosis being made an average of 2 years later. These manifestations are often accompanied by decreased appetite, risk of malabsorption, and impaired physical development. The authors emphasize the importance of early detection of the disease and a multidisciplinary approach to therapy, including enzyme replacement and nutritional support. The results highlight the need for physicians to be vigilant when diagnosing non-specific gastrointestinal symptoms in children.