Fabry disease in adults: a literature review

Abstract

Fabry disease is an X-linked lysosomal deposit disease that produces alpha A galactosidase deficiency. It is a difficult to diagnose disease due to the heterogeneity of its clinical manifestations, where classic manifestations such as angiokeratomas, cornea verticillata, proteinuria, chronic kidney disease that requires replacement therapy, left ventricular hypertrophy, arrhythmias and cerebrovascular disease predominate. Two phenotypes are mainly described, a classic one that is very rare, more severe and manifests itself at an early age, and a late phenotype which manifests itself at an older age and has heart, kidneys and nervous system as its main target organs. Its pathophysiology is complex, related to the accumulation of metabolites derived from glycosphingolipids, as well as the endothelial dysfunction and prothrombotic state that these generate at a systemic level. The diagnosis is made with evidence of decreased enzymatic function, after which a confirmatory genetic study is performed. Timely diagnosis is highly relevant, since there is an effective enzyme replacement therapy, which potentially modifies the natural history of the disease and increases patient survival.