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Fabry disease and its cardiac involvement.
1Department of Cardiology and Geriatrics Kochi Medical School Kochi University Kochi Japan.
Journal of General and Family Medicine
|December 22, 2017
Summary
Fabry disease (FD) is a genetic disorder causing heart problems like left ventricular hypertrophy (LVH). Early diagnosis is crucial for effective enzyme replacement therapy, improving outcomes for affected individuals.
Area of Science:
- Genetics
- Metabolic Disorders
- Cardiology
Background:
- Fabry disease (FD) is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency.
- This leads to glycosphingolipid accumulation, affecting multiple organ systems.
- Cardiac involvement, primarily left ventricular hypertrophy (LVH), is common in FD.
Purpose of the Study:
- To highlight the significance of cardiac manifestations in Fabry disease.
- To emphasize the prevalence of FD in patients with unexplained left ventricular hypertrophy.
- To underscore the importance of timely diagnosis for therapeutic intervention.
Main Methods:
- Review of recent studies on Fabry disease prevalence.
- Analysis of cardiac involvement patterns in FD patients.
- Discussion of diagnostic approaches and therapeutic options.
Main Results:
- Fabry disease affects approximately 1% of patients with unexplained left ventricular hypertrophy.
- Cardiac involvement in FD significantly increases morbidity and mortality risk.
- Enzyme replacement therapy is available and effective when administered promptly.
Conclusions:
- Cardiac variant of FD presents with late-onset isolated cardiac issues.
- Prompt diagnosis of Fabry disease is essential for managing cardiac complications.
- Early treatment can mitigate severe outcomes associated with FD-related heart disease.
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