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

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Exercise intolerance in Fabry disease (FD) patients can be improved with physical exercise training. This study found that 12 months of exercise increased exercise capacity and well-being in FD patients, suggesting inactivity contributes to their limitations.

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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.