Diagnosis and Treatment of Fabry Disease - A Review

Abstract

Fabry disease is a rare lysosomal storage disease that is caused by the irregular degradation of a fatty acid. This disease causes a multisystem disorder affecting mainly the heart and kidneys due to the accumulation of the fatty acid Gb3. There is a classical presentation of Fabry, where patients show symptoms in childhood or early adolescence as well as late onset where patients show symptoms later in life in the third or fourth decade. Early diagnosis is imperative for the success of treatment. This review focuses on symptoms, diagnostic steps, treatment, and future research of Fabry disease.