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Review Article

Treatment of Anderson-Fabry Disease

Author(s): Irene Simonetta*, Antonino Tuttolomondo, Mario Daidone, Salvatore Miceli and Antonio Pinto

Volume 26, Issue 40, 2020

Page: [5089 - 5099] Pages: 11

DOI: 10.2174/1381612826666200317142412

Abstract

Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, predominantly globotriaosylsphingosine (Gb3) in lysosomes, as well as other cellular compartments of several tissues, causing multi-organ manifestations (acroparesthesias, hypohidrosis, angiokeratomas, signs and symptoms of cardiac, renal, cerebrovascular involvement). Pathogenic mutations lead to a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA). In the presence of high clinical suspicion, a careful physical examination and specific laboratory tests are required. Finally, the diagnosis of Fabry’s disease is confirmed by the demonstration of the absence of or reduced alpha-galactosidase A enzyme activity in hemizygous men and gene typing in heterozygous females. Measurement of the biomarkers Gb3 and Lyso Gb3 in biological specimens may facilitate diagnosis. The current treatment of Anderson-Fabry disease is represented by enzyme replacement therapy (ERT) and oral pharmacological chaperone. Future treatments are based on new strategic approaches such as stem cell-based therapy, pharmacological approaches chaperones, mRNA therapy, and viral gene therapy.

This review outlines the current therapeutic approaches and emerging treatment strategies for Anderson-Fabry disease.

Keywords: Fabry disease, enzyme replacement therapy, gene therapy, viral vectors, chaperone therapy, pharmacological.

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