Fabry's disease: Current status and review

Fabry's disease is a rare X-linked metabolic disorder resulting in progressive accumulation of a glycolipid caused by deficiency of a lysosomal hydrolase, α-galactosidase A. The deficiency of this enzyme is due to a genetic defect with an incidence approximately 1/40,000. In an Australian epidemiological study focus on lysosomal disorders, the prevalence of Fabry's disease in Caucasians is about 1/117,000. Fabry's disease is a systemic disorder with multiple clinical manifestations involving the nervous system, skin, eyes, endothelial cells of vessels, kidneys and gastrointestinal tract. The pathological findings in Fabry's disease is a metabolite, globotriaosylceramide which is relentlessly deposited in endothelial cells of vascular system. The treatment of Fabry's disease is symptomatic. The recent development of genetic engineering provides a tool for both diagnostic and therapeutic uses of Fabry's disease. The use of recombinant human enzyme has proven effective to eliminate the accumulation of globotriaosylceramide from various affected organs. We emphasis the multidisciplinary collaboration is essential in order to ensure the optimal treatment of every Fabry patient.