Related Experiment Video
Updated: Nov 8, 2025
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Serial Analysis of Cardiopulmonary Fitness and Echocardiography in Patients with Fabry Disease Undergoing Enzyme
Sheng-Hui Tuan1,2, Pao-Chin Chiu3, I-Hsiu Liou4
1Department of Rehabilitation Medicine, Cishan Hospital, Ministry of Health and Welfare, Kaohsiung, Taiwan.
Insights
Enzyme replacement therapy did not improve exercise capacity in cardiac variant Fabry disease patients over three years. Classic variant Fabry disease patients showed no significant decline in exercise capacity.
Area of Science:
- Cardiology
- Genetics
- Metabolic Disorders
Background:
- Fabry disease is a rare X-linked disorder causing exercise intolerance.
- The cardiac variant (CV-FD) is more prevalent in Taiwan than the classic variant (CL-FD) and primarily affects the heart.
- Enzyme replacement therapy (ERT) is a treatment for both variants.
Purpose of the Study:
- To investigate the impact of ERT on exercise capacity and cardiac structure in CL-FD and CV-FD patients.
- To compare the effects of ERT between the two Fabry disease variants.
Main Methods:
- Retrospective analysis of 10 Fabry disease patients (5 CL-FD, 5 CV-FD) receiving ERT.
- Annual assessments over 3 years included symptom-limited cycle ergometry and echocardiography.
Main Results:
- Patients had significantly reduced peak oxygen consumption (78.78%).
- CV-FD patients showed significant decreases in peak metabolic equivalent and peak oxygen consumption over 3 years (p=0.002, p=0.004).
- CL-FD patients did not exhibit significant changes in exercise capacity; neither variant showed significant changes in left ventricular mass or septal thickness.
Conclusions:
- Peak exercise capacity is reduced in Fabry disease patients compared to healthy individuals.
- Exercise capacity declines over time, particularly in the cardiac variant of Fabry disease, despite ERT.
Objective:
Fabry disease, a rare X-linked disorder, can lead to exercise intolerance. In Taiwan, the cardiac variant of Fabry disease has a significantly higher prevalence than the classic variant. The cardiac variant of Fabry disease primarily involves the heart. Enzyme replacement therapy has been used to treat both variants. We aimed to study the impact of enzyme replacement therapy on exercise and cardiac structures between the classic (CL-FD) and cardiac variant (CV-FD) Fabry disease.
Design And Methods:
Retrospective analysis of 2 groups of patients with Fabry disease (5 patients with the classic variant and 5 with the cardiac variant), who were undergoing enzyme replacement therapy. Patients were assessed annually for 3 years using symptom-limited cycle ergometry and echocardiography.
Results:
Subjects were 5 women, mean age 53 (standard deviation (SD) 14.05) years with CL-FD Fabry disease, and 5 men, mean age 65 (SD 2.35) years with CV-FD. The percentage of peak oxygen consumption to predicted value for all included patients was significantly lower (78.78% (SD 12.72)) than 100%. Annual serial measurement showed that peak metabolic equivalent and percentage of peak oxygen consumptiondecreased significantly over a period of 3 years in patients with CV-FD (p = 0.002, and p =0.004, respectively), but not in those with CL-FD. There were no significant changes in annual serial measurements of left ventricular mass or interventricular septal thickness in patients with either variant of Fabry disease over a period of 3 years.
Conclusion:
Peak exercise capacity of the patients with Fabry disease was lower than that of normal peers. Peak exercise capacity decreased over time.
More Related Videos
12:45Benefits of Cardiac Resynchronization Therapy in an Asynchronous Heart Failure Model Induced by Left Bundle Branch Ablation and Rapid Pacing
Published on: December 11, 2017
07:11Morphological and Functional Assessment of the Right Ventricle Using 3D Echocardiography
Published on: October 28, 2020
Related Concept Videos
01:22Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies
01:17Imaging Studies for Cardiovascular System I:Echocardiography
Indications: Echocardiography is utilized to diagnose heart failure, valve disorders, and myocardial infarction. It also assesses cardiac structures' size, shape, and motion,...
01:30Dysrhythmias V: Evaluating Dysrhythmias
01:30Cardiomyopathy II: Dilated Cardiomyopathy