The estimated prevalence of Fabry Disease is 1 in 40,000 live births. This disease at later age shows progressive damage to kidney, heart and brain. Neuropathic pain is one of the key features of the classical phenotype of the disease and has been shown to start on average at an age of 9 years in male patients and 16 years in female patients, but has even been reported in children as young as 2 years of age. This article talks about the management, diagnosis and symptoms of Fabry Disease.
Fabry disease (FD) is a rare X-linked inherited lysosomal storage disease caused by a deficient or decreased activity of the lysosomal enzyme α-galactosidase A, as a result of a mutation in the GLA gene. The consecutive accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3), in lysosomes of several cell-types results in kidney, heart and nervous system complications. Typical signs…
