Cerebrovascular disorders and Fabry disease

Abstract

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene encoding for alpha-galactosidase A. Renal, cardiac, and cerebrovascular involvement are the leading complications in early adulthood and are associated with severe morbidity and mortality. Cerebrovascular manifestations in FD manifest as ischemic stroke and transient ischemic attack and less frequently as hemorrhagic strokes. Many patients may develop their stroke not only before other major complications but also before the diagnosis of FD is made. This review will describe the frequency and characteristics of cerebrovascular disease in FD, the complex pathophysiological mechanisms, the neuroimaging findings, the value of screening studies in young patients with stroke, and the controversies regarding the beneficial effect of ERT for the prevention of cerebrovascular disease in FD.