Stroke and Fabry disease

Fabry disease (FD) is a rare inherited disorder of the metabolism, associated with renal, cardiac, and cerebrovascular complications. Ischemic and hemorrhagic stroke in FD present with a similar proportion to that observed in the general population, but usually at an early age. Ischemic stroke may result from cardiac embolism, large and small vessel disease, while hemorrhagic stroke is usually attributed to hypertension. Deposition of glycosphingolipids in endothelial cells results in a specific FD vasculopathy that contributes to the different vascular phenotypes. Neuroimaging features of cerebrovascular involvement in FD include white matter lesions, dolichoectasia, and the “pulvinar sign”, a T1 MRI hyperintensity of the posterior thalamus. The role of enzymatic replacement therapy in the prevention of stroke remains to be established, but its utilization should be considered in FD stroke patients, for prevention of renal and cardiac complications, together with general prevention measures. Enzymatic replacement therapy increased our awareness of FD, underlining the importance of incomplete phenotypes in specific settings such as stroke. An overview of studies on the prevalence of FD in stroke patients is presented. Available data suggest that prevalence of FD is similar to some of the rare causes of stroke usually considered, and that classic features of the disease may be absent or more subtle. Moreover, FD should be considered in both cryptogenic and all-cause stroke. The role of FD in stroke on a multifactorial basis and the identification of a putative “stroke variant” are questions that need to be further elucidated in future studies.