[Fabry disease in cardiology: Diagnosis and therapeutic approaches]

Area of Science:

• Genetics
• Metabolic Disorders
• Cardiology

Background:

• Fabry disease is a rare, X-linked inherited disorder caused by deficient lysosomal alpha-galactosidase A activity.
• This deficiency leads to the accumulation of globotriaosylceramide in organs like the heart, kidneys, and nervous system.
• While predominantly affecting males, female heterozygotes can also exhibit symptoms, often less severe.

Purpose of the Study:

• To provide a comprehensive review of the cardiac variant of Fabry disease.
• To cover epidemiology, prognosis, clinical presentation, diagnosis, and therapeutic strategies.
• To highlight the importance of recognizing cardiac manifestations, particularly unexplained ventricular hypertrophy.

Main Methods:

• Literature review of available data on Fabry disease.
• Focus on epidemiological studies, clinical case reports, and treatment outcomes.
• Synthesis of information regarding diagnostic criteria and therapeutic interventions for the cardiac variant.

Main Results:

• Fabry disease prevalence may be underestimated, especially in patients with ventricular hypertrophy, CKD, or cryptogenic stroke.
• Unexplained ventricular hypertrophy is a key cardiac finding, often misdiagnosed as hypertrophic cardiomyopathy.
• Late-onset cardiac and renal variants exist, with less common multi-organ involvement.

Conclusions:

• Early diagnosis of Fabry disease, particularly its cardiac manifestations, is essential.
• Enzyme replacement therapy can significantly improve the prognosis for affected individuals.
• Increased awareness among clinicians is needed to avoid overlooking Fabry disease in patients with unexplained cardiac findings.