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[Fabry disease in 2004].

Dominique-Paul Germain1

  • 1Unit de génétique clinique, Hôpital européen Georges Pompidou, 75015 Paris. dominique.germain@hop.egp.ap-hop-paris.fr

La Revue Du Praticien
|March 17, 2004
PubMed
Summary

Fabry disease, a rare metabolic disorder, results from alpha-galactosidase A deficiency. Early diagnosis and enzyme replacement therapy are crucial to prevent severe complications like heart or stroke events.

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[Could it be a rare disease?].

Presse medicale (Paris, France : 1983)·2008
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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Enzymology

Background:

  • Fabry disease is an X-linked inherited metabolic disorder caused by deficient alpha-galactosidase A activity.
  • This deficiency leads to glycosphingolipid accumulation, causing multi-organ manifestations including pain, renal, cardiac, and neurological issues.
  • Delayed diagnosis is common, hindering timely intervention before irreversible damage.

Purpose of the Study:

  • To highlight the importance of early diagnosis in Fabry disease.
  • To discuss the implications and challenges of enzyme replacement therapy (ERT).
  • To identify optimal monitoring strategies for ERT efficacy.

Main Methods:

  • Literature review on Fabry disease pathophysiology, diagnosis, and treatment.
  • Analysis of clinical trial data for recombinant alpha-galactosidase therapy.
  • Discussion of diagnostic and monitoring tools, including substrate levels, antibody titers, and advanced imaging.

Main Results:

  • Enzyme replacement therapy with recombinant alpha-galactosidase has shown promise in clinical trials.
  • Key questions remain regarding optimal treatment initiation, dosage, frequency, and lesion reversibility.
  • Plasma substrate levels and antibody titers are essential monitoring markers.

Conclusions:

  • Early diagnosis and timely initiation of enzyme replacement therapy are critical for managing Fabry disease.
  • Further research is needed to optimize ERT protocols and assess long-term outcomes.
  • Sophisticated methods like tissue Doppler imaging may be necessary to document short-term clinical benefits.

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