We characterized the prevalence of stroke and cerebral small vessel disease in a single center cohort of Fabry disease patients.

Fabry disease (FD) is an inherited X-linked lysosomal storage disorder with central nervous system involvement. The prevalence of stroke symptoms and cerebral small vessel disease has varied widely in the literature.    

Brain MRI was performed on all members of our 21 patients with Fabry disease followed at UC Irvine.  Stroke symptoms were assessed and cerebral microvascular disease was quantified using Small Vessel Disease score.  The scale rates lacunes, deep white matter hyperintensities, and cerebral microbleeds.  Presence of lacunes and white matter hyperintensities are scored independently on a three-point scale, to account for increasing severity; microbleeds are scored one point if present, and maximal score is seven.

42.9% (9/21) of our Fabry disease cohort had a small vessel disease score of one or higher.  Of our 12 patients aged 50 or more, 75% (9/12) had a small vessel score of one or higher.  The most common MRI-defined small vessel disease was white matter hyperintensities (9/12), followed by microbleeds (6/12), and, less frequently, lacunes (3/12).  Three of our patients had stroke symptoms, and they tended to have the highest small vessel disease scores (scores 3, 4, and 5).   

In this cohort, the prevalence of cerebral small vessel disease (43%) was three times higher than prevalence of stroke symptoms.  These findings emphasize the importance of routine MRI screening of patients with Fabry disease.