Enzyme replacement therapy in patients with Fabry disease: State of the art and review of the literature

► Anderson-Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency of the hydrolytic enzyme alpha galactosidase A. ► The current causal treatment for Fabry disease is the enzyme replacement therapy with two different products, Replagal (agalsidase alfa) and Fabrazyme (agalsidase beta) that have been commercially available in Europe for almost 10 years. ► This article reviews the published evidence of the clinical efficacy of the two available enzyme preparations. ► This review also focuses on the novel treatments and therapeutic options that are currenty available in patients with Anderson-Fabry disease.