Enzyme replacement therapy increases skin blood flow in Fabry disease

Background: In Fabry patients, alpha-galactosidase A deficiency with glycosphingolipid deposition in vessel walls and sympathetic vasomotor fibers alters tissue perfusion. Impaired vasomotor control results in excessive post-ischemic hyperemia (Stemper and Hilz, J Neurol., 2003). Enzyme replacement therapy (ERT) with agalsidase beta improves small nerve fiber function (Hilz et al. Neurology. 2004) and very likely improves end-organ perfusion, including skin perfusion. Objective: To assess ERT effects on the control of post-ischemic superficial skin blood flow (SBF). Methods: In 22 Fabry patients (29±8 years) we…