Physical Fitness and Physical Function in Patients With Fabry Disease: A Cross-Sectional Multicentre Study.

ABSTRACT:

Background

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.

Methods

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 perfor

SUBMITTER: Vitturi N 

PROVIDER: S-EPMC12916441 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature