Journal of Multidisciplinary Healthcare (Mar 2022)
Multidisciplinary Management of Fabry Disease: Current Perspectives
Abstract
Luciana Paim-Marques,1 Rodrigo Joel de Oliveira,2 Simone Appenzeller2 1Department of Pediatrics, University of Florida, Gainesville, FL, USA; 2Department of Orthopedics, Rheumatology and Traumatology- School of Medical Sciences and University of Campinas (UNICAMP), São Paulo, BrazilCorrespondence: Simone Appenzeller, Department of Medicine, School of Medical Science, State University of Campinas, Cidade Universitária, Campinas, CEP 13083-970, SP, Brazil, Fax +55 19 3289-1818, Email [email protected]: 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, multidisciplinary care, alfa-galactosidase
