João Paulo Oliveira

TL;DR: Quality of life (QoL), as measured by the SF-36((R)) survey, was impaired at a later age than in males, but both genders experience significantly impaired QoL from the third decade of life onward, Thus, females with FD have a significant risk for major organ involvement and decreased QOL.

TL;DR: In this article, the authors defined European consensus recommendations for the initiation and cessation of Enzyme Replacement Therapy (ERT) in patients with Fabry disease, which may halt or attenuate disease progression.

TL;DR: It is confirmed that a significant proportion of females suffer moderate to severe kidney involvement in Fabry disease and proteinuria values were significantly correlated with systolic blood pressure in both sexes.

TL;DR: Adults with Fabry disease are at risk for progressive loss of eGFR despite enzyme replacement therapy, particularly if proteinuria is ≥1 g/g, and early intervention may lead to optimal renal outcomes.

TL;DR: The development of a standardized scoring system of both disease-specific lesions, i.e. lipid deposition related, and general lesions of progression, showed a spectrum of histologic appearances even in early clinical stage of Fabry nephropathy.