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Review
. 2022 Mar 10:15:485-495.
doi: 10.2147/JMDH.S290580. eCollection 2022.

Multidisciplinary Management of Fabry Disease: Current Perspectives

Luciana Paim-Marques  1 , Rodrigo Joel de Oliveira  2 , Simone Appenzeller  2
Affiliations
Review

Multidisciplinary Management of Fabry Disease: Current Perspectives

Luciana Paim-Marques et al. J Multidiscip Healthc. .

Abstract

Fabry disease (FD) is a rare, recessive X-linked, multisystemic lysosomal storage disorder (LSD) that results from a deficiency in the hydrolase alpha-galactosidase A (α-GalA) caused by a GLA gene variant. The progressive accumulation of the glycosphingolipid globotriaosylceramide (Gb3) in organs such as skin, kidney, brain, joints, vascular walls and eyes are responsible for the wide spectrum of clinical manifestations, often unspecific. In result, clinically relevant and life-threatening complications, such as malignant ventricular arrhythmia, sudden cardiac death, end stage kidney failure and stroke may occur. In this review, we will describe the clinical features and the current perspectives in the multidisciplinary management Of FD patients.

Keywords: Fabry disease; alfa-galactosidase; multidisciplinary care.

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Conflict of interest statement

All authors declare that they have no conflicts of interest related to the study.

Figures

Figure 1
Figure 1
Early diagnosis of FD involves family screening and genetic counselling, physician awareness and availability of genetic testing.
Figure 2
Figure 2
Multidisciplinary care in FD patients.
Figure 3
Figure 3
Treatment aspects in FD.
See this image and copyright information in PMC

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