Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease

BackgroundThe X-chromosomally linked life-limiting Fabry disease (FD) is associated with deposits of the sphingolipid globotriaosylceramide 3 (Gb3) in various tissues. Skin is easily accessible and may be used as an additional diagnostic and follow-up medium. Our aims were to visualize skin Gb3 deposits in FD patients applying immunofluorescence and to determine if cutaneous Gb3 load correlates with disease severity.MethodsAt our Fabry Center for Interdisciplinary Therapy we enrolled 84 patients with FD and 27 healthy controls. All subjects underwent 5-mm skin punch biopsy at the lateral lower leg and the back. Skin samples were processed for immunohistochemistry using antibodies against CD77 (i.e. Gb3). Cutaneous Gb3 deposition was quantified in a blinded manner and correlated to clinical data.ResultsWe found that Gb3 load was higher in distal skin of male FD patients compared to healthy controls (pConclusionsImmunofluorescence on minimally invasive skin punch biopsies may be useful as a tool for assessment and follow-up in FD patients.