Fabry Cardiomyopathy: Current Treatment and Future Options

Irfan Vardarli,Frank Weidemann,Manuel Weber,Ken Herrmann,Christoph Rischpler,Dagmar Führer

doi:10.3390/jcm10143026

Abstract

Fabry disease is a multisystem X-linked lysosomal storage disorder caused by a mutation in the alpha-galactosidase A gene. Deficiency or reduced activity of alpha-galactosidase A (GLA) is leading to progressive intracellular accumulation of globotriaosylceramide (GL3) in various organs, including the heart, kidney and nerve system. Cardiac involvement is frequent and is evident as concentric left ventricular hypertrophy. Currently, the standard treatment is enzyme replacement therapy or chaperone therapy. However, early starting of therapy, before myocardial fibrosis has developed, is essential for long-term improvement of myocardial function. For future treatment options, various therapeutic approaches including gene therapy are under development. This review describes the current and potential future therapy options for Fabry cardiomyopathy.

Highlights

Fabry disease (FD) is a multisystem X-linked lysosomal storage disorder caused by a mutation in the alpha-galactosidase A (GLA) gene [1]
Fabry cardiomyopathy, which leads to reduced life expectancy in untreated patients [46,47], can be treated with a causal therapy
Fabry cardiomyopathy, which leads to reduced life expectancy in untreated patients, can be treated with a causal therapy

Summary

Introduction

Fabry disease (FD) is a multisystem X-linked lysosomal storage disorder caused by a mutation in the alpha-galactosidase A (GLA) gene [1]. In females and in patients with late-onset mutations (e.g., N215S cardiac variant mutation) the enzyme activity may be residual or even normal; in such cases, genetic testing of Fabry mutations is mandatory [11]. Blood tests are very easy to perform, a lot of patients are diagnosed late during the disease progression. The reason for this is that symptoms can vary a lot and it is difficult for the clinician to assign very general symptoms to this very rare disease. Various therapeutic approaches including gene therapy are under development. This review describes the current and future therapy options for Fabry cardiomyopathy

Fabry Cardiomyopathy

Current Treatment

Current

Findings

Conclusions