Stroke and Fabry Disease: A Review of Literature

Fabry disease is an X-linked lysosomal storage disorder caused by a mutation in the alpha-galactosidase A (GLA) gene, leading to the deficiency of alpha-galactosidase A enzyme. The natural history of the affected patients (both males and females) includes neurovascular complications, such as cerebrovascular disease at a relatively young age. The pathophysiology behind the vascular involvement is primarily attributed to the accumulation of globotriaosylceramide and its derivatives in the vascular endothelium and vascular smooth muscle cells. MRI is the gold standard radiological investigation to detect the white matter lesions characteristic of Fabry disease's neurological involvement. More studies should focus on the utility of universally screening patients with young stroke for Fabry disease and the effectiveness of enzyme replacement therapy to prevent stroke. This review offers a synopsis of the current knowledge of the pathophysiology, neuroradiology, treatment, and prognosis of cerebrovascular disease in Fabry patients.