Fabry Disease

Fabry disease is a genetic disease caused by enzyme α-galactosidase A deficiency, encoded by GLA gene, which is located in the X-chromosome. The impairment of the α-galactosidase A activity leads to cellular accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in many organs. Fabry disease is a lysosomal disease, and primarily affects kidney, heart, gastrointestinal tract, and nervous system. Both the central nervous system (CNS) and the peripheral nervous system (PNS) can be affected. This chapter highlights the clinical features involving the PNS (including the autonomic system) and CNS. The involvement of the cerebral circulation is a major feature of Fabry disease, with ischemic stroke and cerebral small vessel disease as the most relevant findings. This chapter comprehensively focuses on the epidemiology, clinical features, neuroimaging, and pathogenesis of stroke and cerebrovascular disease in Fabry disease. The chapter also discusses the current knowledge regarding diagnosis, treatment, and monitoring of patients with Fabry disease.