[Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature].
[fabry disease]
Anderson-Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency of the hydrolytic enzyme alpha galactosidase A, with consequent accumulation of globotrioasoyl ceramide in cells and tissues of the body, resulting in a multi-system pathology including end organ failure. In the classical phenotype, cardiac failure, renal failure and stroke result and a reduced median life expectancy ensues. The current causal treatment for Fabry disease is enzyme replacement therapy (ERT). Two different products, Replagal (agalsidase alfa) and Fabrazyme (agalsidase beta), have been commercially available in Europe for almost 10 years and they are both indicated for long-term treatment. In fact, clinical trials, observational studies and registry data have provided abundant evidence for the safety and efficacy of ERT in improving symptoms of pain, gastrointestinal disorder, hypohidrosis, left ventricular mass index, glomerular filtration rate and quality of life. Few data are available on either comparison of the two treatments or the clinical course of the disease. This article reviews the published evidence for the clinical efficacy of the two available enzyme preparations.
