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Fabry disease (FD) is a rare genetic disorder causing progressive organ damage. Current treatments like enzyme replacement and chaperone therapy help manage glycosphingolipid accumulation but have limitations, necessitating ongoing research for better therapeutic options.

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Area of Science:

  • Genetics and rare diseases
  • Lysosomal storage disorders
  • Biochemistry and molecular biology

Background:

  • Fabry disease (FD) is an X-linked lysosomal storage disorder due to α-galactosidase A (AGAL) deficiency.
  • Mutations in the α-galactosidase A gene (GLA) cause glycosphingolipid accumulation (Gb3, lyso-Gb3), leading to multisystemic complications and reduced life expectancy.
  • Diagnosis requires AGAL deficiency detection in males and genetic testing in females due to variable enzyme activity.

Purpose of the Study:

  • To provide an overview of Fabry disease clinical manifestations.
  • To discuss diagnostic confirmation strategies.
  • To review current and future therapeutic interventions for FD.

Main Methods:

  • Review of clinical presentation and diagnostic criteria for Fabry disease.
  • Analysis of current treatment modalities including enzyme replacement therapy (ERT) and chaperone therapy (migalastat).
  • Discussion of limitations associated with existing therapies and exploration of future therapeutic avenues.

Main Results:

  • Fabry disease presents with progressive renal failure, cardiomyopathy, and stroke.
  • ERT and chaperone therapy can reduce Gb3 levels but have limitations, including infusion reactions, antibody formation, and mutation-specific efficacy.
  • About 40% of men on ERT experience adverse effects or reduced efficacy.

Conclusions:

  • Fabry disease requires interdisciplinary management due to its multisystemic nature.
  • Current therapies offer benefits but are associated with significant challenges.
  • Further research into novel therapeutic strategies is crucial for improving outcomes in FD patients.