biostudies-literatureUnknown17(1)Vitturi NUniversità degli Studi di Verona<h4>Background</h4>Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting multiple organs, including the musculoskeletal system. The physical status of FD patients remains poorly characterized. This multicentre cross-sectional study aimed to evaluate physical fitness and function in FD patients and investigate associations with sex, FD phenotype and treatment status.<h4>Methods</h4>Adults (aged ≥ 18 years) with genetically confirmed FD were recruited. Demographic and laboratory data were collected. Physical fitness was assessed using cardiopulmonary exercise testing (VO₂ peak) and body composition parameters (fat-free mass index [FFMI], fat mass index [FM] and phase angle [PA]) via bioelectrical impedance analysis. Physical function was evaluated with perforJournal of cachexia, sarcopenia and musclee70233https://www.ebi.ac.uk/biostudies/studies/S-EPMC12916441biostudies-literaturePhysical Fitness and Physical Function in Patients With Fabry Disease: A Cross-Sectional Multicentre Study.PMC12916441Sponchiado SGirelli DGasperetti ACaccia FVitturi NErmolao ADalmonico ABaschirotto CFadini GPGugelmo GMarchi GCominacini MBattaglia YCarraro GLenzini LMomente CBaciga FDuregon FfalsePhysical Fitness and Physical Function in Patients With Fabry Disease: A Cross-Sectional Multicentre Study.<h4>Background</h4>Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting multiple organs, including the musculoskeletal system. The physical status of FD patients remains poorly characterized. This multicentre cross-sectional study aimed to evaluate physical fitness and function in FD patients and investigate associations with sex, FD phenotype and treatment status.<h4>Methods</h4>Adults (aged ≥ 18 years) with genetically confirmed FD were recruited. Demographic and laboratory data were collected. Physical fitness was assessed using cardiopulmonary exercise testing (VO₂ peak) and body composition parameters (fat-free mass index [FFMI], fat mass index [FM] and phase angle [PA]) via bioelectrical impedance analysis. Physical function was evaluated with perfor2026-01-01T00:00:00Z2026 Feb2026-07-16T07:54:37.724Z2026-07-09T10:46:16.012ZS-EPMC129164414170911010.1002/jcsm.70233