Medknow Publications on behalf of Indian Society of Human Genetics
Abstract
Background: Nail bed capillaroscopy represents a simple and innocuous
diagnosis method, used in vasculitis or collagen diseases. In Fabry
disease (FD), there is a vasculopathy due to the storage of
globotriaosylceramide. This is the first series that studies
capillaroscopy in FD. Objective: To describe and evaluate the
capillary findings in Fabry patients. Materials and Methods: Eight
Fabry patients were selected; five were under enzyme replacement
therapy (ERT) with agalsidase-A. Results: In three patients (under
ERT), the capillaroscopy showed no abnormalities; two patients had
absence of some capillaries (one with ERT); in three (one with ERT) the
capillaroscopy revealed ramification of capillaries. Patients with
normal capillaroscopy had no symptom of acroparesthesia for more than a
year. Conclusions: Capillaroscopy is a good method to evaluate small
vessels in FD and seems to have a correlation with ERT benefits,
clinical manifestations and capillary findings. We purpose to use the
capillaroscopy in the study of Fabry patients