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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
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Fabry disease
Toshinori Yuasa1, Toshihiro Takenaka2, Koji Higuchi3
1Department of Cardiovascular Medicine and Hypertension, Graduate School of Medical and Dental Sciences, Kagoshima University, 8-35-1 Sakuragaoka, Kagoshima, Kagoshima, Japan. yuasan@hotmail.com.
Journal of Echocardiography
|July 5, 2017
Summary
Fabry disease, caused by alpha-galactosidase A deficiency, can cause heart problems. Early diagnosis using echocardiography is crucial for timely enzyme replacement therapy to prevent cardiac fibrosis.
Area of Science:
- Cardiology
- Genetics
- Metabolic Disorders
Background:
- Fabry disease is an X-linked disorder caused by alpha-galactosidase A deficiency, leading to globotriaosylceramide accumulation.
- Males typically exhibit more severe symptoms than females.
- Cardiac variant of Fabry disease specifically affects the heart, causing hypertrophy and dysfunction.
Purpose of the Study:
- To emphasize the importance of early diagnosis of Fabry disease.
- To highlight echocardiography as a key diagnostic tool for cardiac Fabry disease.
- To recommend considering Fabry disease in differential diagnoses for unexplained left ventricular hypertrophy.
Main Methods:
- Review of clinical manifestations of Fabry disease.
- Discussion of diagnostic utility of echocardiography in cardiac Fabry disease.
- Analysis of treatment implications for early diagnosis.
Main Results:
- Cardiac Fabry disease presents initially as symmetrical concentric left ventricular hypertrophy.
- Progressive cardiac dysfunction and basal posterior wall thinning occur later.
- Enzyme replacement therapy is most effective when initiated before cardiac fibrosis develops.
Conclusions:
- Early diagnosis of Fabry disease is essential for effective treatment, particularly enzyme replacement therapy.
- Echocardiography is an indispensable tool for the clinical diagnosis of cardiac Fabry disease.
- Fabry disease should be considered in the differential diagnosis of unexplained left ventricular hypertrophy.
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