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Published on: September 26, 2018
Diagnosis and treatment of the cardiovascular consequences of Fabry disease
S Baig1,2, R Vijapurapu1,2, F Alharbi3
1Department of Cardiology, Queen Elizabeth Hospital Birmingham, Birmingham, UK.
Insights
Fabry disease (FD) diagnosis is improving, leading to earlier detection of cardiac issues. This review guides physicians on managing FD, focusing on timely diagnosis and effective treatment strategies.
Area of Science:
- Cardiology
- Genetics
- Rare Diseases
Background:
- Fabry disease (FD) presents diagnostic challenges, historically leading to delayed diagnosis.
- Cardiac involvement is the primary cause of mortality in FD patients.
- Increased prevalence is linked to advanced diagnostics and rare disease services.
Purpose of the Study:
- To provide general physicians with an overview of Fabry disease.
- To summarize FD etiology, pathology, and cardiovascular manifestations.
- To discuss diagnostic modalities and current treatment indications.
Main Methods:
- Review of current literature on Fabry disease diagnosis and management.
- Analysis of diagnostic advancements including enzyme assays and genetic profiling.
- Evaluation of treatment strategies, including enzyme replacement therapy, pharmacotherapy, and device implantation.
Main Results:
- Earlier diagnosis of asymptomatic individuals is now feasible.
- Focus is shifting towards early organ involvement detection and monitoring.
- Effective treatment targeting is crucial due to high therapy costs.
Conclusions:
- Improved diagnostic tools enhance early detection of Fabry disease.
- Proactive monitoring and targeted treatment are essential for managing cardiac complications.
- This review offers guidance for physicians in diagnosing and treating FD effectively.
Abstract:
Fabry disease (FD) has been a diagnostic challenge since it was first recognized in 1898, with patients traditionally suffering from considerable delay before a diagnosis is made. Cardiac involvement is the current leading cause of death in FD. A combination of improved enzyme assays, availability of genetic profiling, together with more organized clinical services for rare diseases, has led to a rapid growth in the prevalence of FD. The earlier and more frequent diagnosis of asymptomatic individuals before development of the phenotype has focussed attention on early detection of organ involvement and closer monitoring of disease progression. The high cost of enzyme replacement therapy at a time of constraint within many health economies, moreover, has challenged clinicians to target treatment effectively. This article provides an outline of FD for the general physician and summarizes the aetiology and pathology of FD, the cardiovascular consequences thereof, modalities used in diagnosis and then discusses current indications for treatment, including pharmacotherapy and device implantation.
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