Anderson-Fabry disease: developments in diagnosis and treatment.

Anderson-Fabry disease (commonly known as Fabry disease) is an X-linked disorder that is caused by deficiency of the lysosomal enzyme a-galactosidase A. The resulting accumulation of globotriaosylceramide leads to a wide spectrum of clinical signs and symptoms that affect many organs, including the kidneys, heart and brain. In recent years, our understanding of the natural history of Fabry disease has improved considerably, as have methods of clinical characterization and diagnosis. It is now apparent that this disorder may be much more common than previously suspected. The long-term efficacy of enzyme replacement therapy (ERT) in reducing disease burden in patients with Fabry disease continues to be demonstrated in clinical trials and observational studies; however, it is clear that ERT has limitations. This review provides an overview of current issues in the diagnosis and treatment of patients with Fabry disease and considers what may lie ahead in this rapidly evolving therapeutic area.