Fabry disease with cardiovascular manifestation in a patient with end-stage renal disease

Area of Science:

• Genetics
• Cardiology
• Rare Diseases

Background:

• Fabry disease is a rare X-linked hereditary lysosomal storage disorder.
• It results from mutations in the gene encoding the enzyme alpha-galactosidase A.
• Clinical presentation is highly variable, affecting organs like the kidneys, heart, central nervous system, and skin.

Observation:

• A 51-year-old male patient presented with cardiac involvement as the primary diagnostic manifestation.
• This cardiac involvement led to an endomyocardial biopsy.
• The patient had a 9-year history of end-stage renal failure requiring dialysis.

Findings:

• The endomyocardial biopsy significantly contributed to the diagnosis of Fabry disease.
• Cardiac manifestations can be a key diagnostic indicator for Fabry disease, even in patients with established renal failure.

Implications:

• Highlights the importance of considering Fabry disease in patients with cardiac symptoms, irrespective of renal status.
• Emphasizes the diagnostic value of endomyocardial biopsy in complex cases.
• Underscores the multi-organ impact of Fabry disease and the need for comprehensive evaluation.