Guidelines for diagnosis, therapy and follow up of Anderson-Fabry disease

Area of Science:

• Genetics and rare diseases
• Lysosomal storage disorders
• Metabolic diseases

Background:

• Fabry disease (Anderson-Fabry disease) is a prevalent lysosomal storage disease caused by alpha-galactosidase A (alpha-Gal A) deficiency.
• This deficiency leads to globotriaosylceramide accumulation in cells, primarily endothelium and vascular smooth muscles, causing multisystemic symptoms.

Purpose of the Study:

• To summarize the key aspects of Fabry disease, including its incidence, clinical manifestations, and treatment recommendations.

Main Methods:

• Review of existing literature on Fabry disease.
• Analysis of incidence estimates and clinical presentation data.
• Evaluation of treatment guidelines for enzyme replacement therapy.

Main Results:

• Incidence estimates vary, with higher prevalence in males (1:40,000–60,000) compared to the general population (1:117,000).
• Common early symptoms include pain, gastrointestinal issues, vision problems, and hearing loss. Renal failure, cardiomyopathy, or stroke can also be presenting symptoms.
• Life expectancy is significantly reduced (approx. 20 years in males, 10–15 in females).

Conclusions:

• Enzyme replacement therapy is recommended for all individuals diagnosed with Fabry disease who meet treatment criteria, regardless of age or sex.
• Early diagnosis and intervention are critical to manage multisystemic manifestations and improve patient outcomes.