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

Area of Science:

• Cardiology
• Genetics
• Metabolic Disorders

Background:

• Fabry disease (FD) is a rare X-linked lysosomal storage disorder impacting multiple organs.
• The physical status and functional capacity of FD patients are not well-understood.
• This study addresses the need for characterization of physical fitness in FD.

Purpose of the Study:

• To evaluate physical fitness and function in adult FD patients.
• To investigate associations between physical status and factors like sex, phenotype, and treatment.
• To inform routine clinical evaluation of FD patients.

Main Methods:

• Recruited 42 adult FD patients with confirmed genetic diagnosis.
• Assessed physical fitness via cardiopulmonary exercise testing (VO2 peak) and body composition (bioelectrical impedance analysis).
• Evaluated physical function using performance tests, muscle strength tests, and fatigue questionnaires, stratified by sex, phenotype, and treatment.

Main Results:

• Classic FD phenotype patients had lower VO2 peak and fat-free mass index compared to late-onset/VUS.
• Treated males exhibited lower phase angle (PA) correlated with VO2 peak.
• Classic males showed reduced handgrip strength and chair-stand test performance; classic and treated patients reported higher fatigue.

Conclusions:

• Classic FD phenotype, particularly in males, is linked to diminished exercise capacity, muscle mass, and physical performance.
• Findings support incorporating cardiopulmonary exercise testing, functional assessments, and body composition analysis into routine FD care.
• This comprehensive approach can improve patient management and quality of life.