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Fabry disease: a review.

Charles Masson1, Idrissa Cissé, Virginie Simon

  • 1Rheumatology department, CHU d'Angers, 49033 Angers cedex 1, France. ChMasson@chu-angers.fr

Joint Bone Spine
|October 12, 2004
PubMed
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Fabry disease, an inherited condition, causes glycosphingolipid buildup due to alpha-galactosidase A deficiency. Enzyme replacement therapy offers a breakthrough treatment, relieving pain and reducing complications.

Area of Science:

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

Background:

  • Fabry disease is an X-linked inherited disorder caused by mutations in the Gal gene, leading to alpha-galactosidase A (alpha GalA) deficiency.
  • This deficiency results in the accumulation of glycosphingolipids within lysosomes, causing multisystemic health problems.
  • Affected males typically develop severe symptoms in childhood or adolescence, while heterozygous females may be asymptomatic or experience milder symptoms.

Purpose of the Study:

  • To provide a comprehensive overview of Fabry disease, including its genetic basis, clinical manifestations, diagnostic challenges, and therapeutic advancements.
  • To highlight the significance of enzyme replacement therapy (ERT) as a major breakthrough in managing Fabry disease.
  • To emphasize the importance of specialized centers for managing this rare condition.

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Main Methods:

  • Review of existing literature on Fabry disease genetics, pathophysiology, clinical presentation, and treatment options.
  • Analysis of diagnostic methods, including enzyme activity assays and genetic testing.
  • Evaluation of the efficacy and safety of enzyme replacement therapy (ERT) with agalsidase alfa or beta.

Main Results:

  • Fabry disease presents with a wide range of symptoms including pain, skin lesions, and progressive organ damage (stroke, heart, kidney).
  • Diagnosis can be challenging, especially with negative family history, necessitating enzyme activity tests and genetic mutation analysis.
  • Enzyme replacement therapy with agalsidase alfa or beta has shown significant benefits in alleviating pain and reducing disease complications, with a good safety profile.

Conclusions:

  • Fabry disease is a serious inherited disorder requiring early diagnosis and management.
  • Enzyme replacement therapy represents a significant therapeutic advance, improving patient outcomes.
  • Due to the complexity and cost of treatment, referral to specialized centers is crucial for optimal patient care.