Gastrointestinal manifestations of Fabry disease

Excerpt

The majority of individuals affected with Fabry disease report profound gastrointestinal symptoms, such as diarrhoea, abdominal pain and early satiety, which can have a profoundly negative effect on their quality of life. Without treatment, the disease is unremitting and progressive, with increasing amounts of lipid-rich materials being stored in a variety of cells, including intrinsic neurones of the intestinal tract. With the advent of enzyme replacement therapy, it is hoped that the pathological changes may be preventable, and even reversible, and recent data suggest that gastrointestinal symptoms are especially responsive to treatment. This supports the case for closer monitoring and evaluation of the gastrointestinal manifestations of Fabry disease, which could provide important insights that may help to optimize treatment strategies.