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Updated: Jan 31, 2026

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Fabry disease, a rare genetic disorder, presents diagnostic and treatment challenges due to numerous mutations and enzyme replacement therapy (ERT) antibody development. This review covers recent advancements in managing this lysosomal storage disorder.

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Area of Science:

  • Genetics and rare diseases
  • Biochemistry
  • Clinical medicine

Background:

  • Fabry disease is a rare lysosomal storage disorder caused by alpha-galactosidase deficiency.
  • Accumulation of substrates leads to diverse clinical manifestations.
  • Enzyme replacement therapy (ERT) has been available since 2001, increasing patient numbers and awareness.

Purpose of the Study:

  • To summarize recent scientific developments in the diagnosis and management of Fabry disease.
  • To discuss challenges posed by genetic heterogeneity and ERT antibody formation.
  • To provide an outlook on future therapeutic strategies.

Main Methods:

  • Literature review of recent scientific publications.
  • Analysis of diagnostic and prognostic difficulties.
  • Evaluation of ERT effectiveness and challenges.

Main Results:

  • Over 900 alpha-galactosidase gene mutations are known, complicating diagnosis and prognosis.
  • Development of neutralizing antibodies to ERT can reduce treatment effectiveness.
  • Increasing patient numbers present new clinical management challenges.

Conclusions:

  • Accurate diagnosis and prognosis remain challenging due to genetic variability.
  • Managing patients who develop antibodies to ERT requires careful consideration.
  • Ongoing research aims to improve diagnostics and develop novel treatments for Fabry disease.