Neuropathic Pain in a Large Turkish Family with Fabry Disease

Abstract

Fabry Disease is an X-linked lysosomal storage disease caused by the mutations in the GLA gene coding for the lysosomal enzyme alpha-galactosidase in chromosome Xq22.1. Neuropathic pain is common. In this study, our goal was to investigate the diagnostic yield of Lanss and DN4 scores which have not been used in Fabry Disease until now, to our knowledge. We also kept track of these tests in the followup. The pain scores before and after each and every two months of ERT (the patients received ERT every two weeks) regressed during ten months of therapy and this regression was statistically significant (p=0.001).