Physical Exercise in Patients with Fabry Disease - a Pilot Study.

Area of Science:

• Cardiology
• Genetics
• Exercise Physiology

Background:

• Fabry disease (FD) is a rare genetic disorder impacting multiple organ systems.
• Exercise intolerance is a common but often unaddressed symptom in FD patients.
• The underlying causes of exercise intolerance in FD are not fully understood.

Purpose of the Study:

• To evaluate exercise intolerance in Fabry disease patients.
• To assess the impact of a 12-month exercise training program on FD patients' physical capacity and well-being.
• To explore the relationship between physical inactivity and exercise limitations in FD.

Main Methods:

• 14 FD patients (mean age 46) underwent a 12-month strength/circuit exercise training program.
• Exercise capacity was measured using cycle ergometry.
• Muscle strength was assessed through isokinetic measurements and blood lactate levels were monitored.

Main Results:

• A statistically significant increase in mean relative maximum performance (12.1%) was observed post-training (p=0.035).
• Mean maximum performance blood lactate levels also increased significantly (p=0.038).
• Patients reported improvements in well-being, daily activity, and reduced fatigue.

Conclusions:

• Exercise intolerance in FD patients may stem significantly from physical inactivity.
• Exercise training can be a viable intervention to enhance exercise capacity and muscle strength in FD.
• Further research is warranted to confirm the long-term clinical benefits of exercise interventions in Fabry disease management.