Fabry disease. Disabling and underdiagnosed

Abstract

Fabry disease is an inborn error of the metabolism, it is cause by a mutation in the gene that provides the code for making the enzyme called α-Galactosidase A. It is an X-linked inherited disorder. The approximate incidence is from 1 in 40000 to 1 in 117000 in the general population. The α-Galactosidase A deficient activity results in a progressive accumulation of the globotroasylceramide (GL 3) within the lysosomes causing several problems in many tissues and cell types, such as vascular endothelium, smooth muscle cells, myocardium, kidney cells and nervous system cells. Early symptoms onset appear during childhood and are often misdiagnosed as other more frequent diseases such as rheumatic fever, juvenile idiopathic arthritis, Raynaud syndrome and growing pain. The diagnosis, in male homozygote, is made by testing the deficiency or complete absent of the α-GalactosidaseA activity. Because female heterozygote can have α-GalactosidaseA activity in the low-normal range, the diagnosis should be sought using molecular analysis to identify mutation on the α-Galactosidase A gene. The enzymatic replacement therapy has proven to reverse the symptoms and decrease the number of major events, especially when it is initiated in the early stages of the disease.