Fabry disease is an X-linked disorder caused by a deficiency of lysosomal α-galactosidase, resulting in progressive multisystemic accumulation of glycosphingolipids, mainly globotriaosilceramide. The initial symptoms are mainly skin manifestations such as hypohidrosis, angiokeratoma, and acroparenthesias. Subsequent kidney failure, heart disease, and strokes lead to early death, typically at the age of 50 years. The prevalence of Fabry disease was estimated to be 1:500,000 births. However, recent neonatal mass screenings have shown the prevalence to be 1:1,250 to 1:3,100, which means Fabry disease is a relatively common disorder. Until the 2000s, treatment of Fabry disease targeted the symptomatic effects. Since Enzyme Replacement Therapy (ERT) became available in 2001, Fabry disease can be treated more fundamentally. Since 2001, we have treated 3 patients with Fabry disease using ERT. In two cases, we were able to begin the ERT treatment at the early stage of the disease, and no severe symptoms including heart failure, storokes and kidney failure have occurred to date. In the one case with proteinuria, even with ERT, the renal function gradually declined, resulting in dialysis therapy. Early initiation of ERT is important to slow disease progression. As the initial manifestations are mainly dermatological in Fabry disease, the role of dermatologists is important in early diagnosis.
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