Fabry disease cardiomyopathy: A practical guide for cardiologists

Area of Science:

• Genetics
• Biochemistry
• Medical Diagnostics

Background:

• Fabry disease (FD) is an X-linked lysosomal storage disorder.
• It involves glycosphingolipid accumulation, primarily globotriaosylceramide (Gb3), in cells.
• Cardiac, nervous, and renal tissues are most affected, with heart issues being a leading cause of mortality.

Purpose of the Study:

• To highlight the diagnostic challenges of Fabry disease.
• To emphasize the role of advanced imaging in early detection.
• To discuss the implications for treatment initiation and family screening.

Main Methods:

• Review of Fabry disease pathophysiology and clinical presentation.
• Discussion of diagnostic advancements, focusing on echocardiography and MRI.
• Analysis of the impact of early diagnosis on treatment eligibility.

Main Results:

• Fabry disease is often misdiagnosed due to rarity and varied symptoms, particularly in women.
• Echocardiography and MRI are crucial for identifying early cardiac involvement (Fabry cardiomyopathy).
• Early identification of end-organ damage enables treatment for patients ineligible for advanced therapies and asymptomatic family members.

Conclusions:

• Advanced imaging techniques are vital for early Fabry disease diagnosis and management.
• Timely diagnosis facilitates treatment initiation, potentially altering disease progression.
• Screening and early detection are critical for managing Fabry disease in affected families.