Anderson-Fabry disease management: role of the cardiologist

Area of Science:

• Cardiology
• Genetics
• Metabolic Disorders

Background:

• Anderson-Fabry disease (AFD) is a lysosomal storage disorder with cardiac involvement, affecting up to 1% of hypertrophic cardiomyopathy (HCM) patients.
• Timely differential diagnosis of AFD is crucial due to evolving targeted therapies and the potential for severe cardiac complications.
• Diagnosing AFD can be challenging, especially in non-classic phenotypes with isolated cardiac symptoms.

Approach:

• This review redefines the cardiologist's role in the diagnosis and management of Anderson-Fabry disease.
• It highlights the importance of a multidisciplinary team approach for optimal patient care.
• The review discusses key decision points in contemporary AFD clinical care and drug discovery.

Key Points:

• Late diagnosis of AFD leads to increased cardiac morbidity and mortality.
• Cardiologists are central to differential diagnosis, complication prevention, and treatment timing.
• The evolving therapeutic landscape necessitates a proactive approach to AFD identification.

Conclusions:

• Optimizing Anderson-Fabry disease management requires a collaborative effort with cardiologists at the forefront.
• Early recognition and intervention significantly impact patient prognosis.
• Further research and redefined clinical roles are essential for advancing AFD care and drug development.