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[Fabry disease: A review].

M Michaud1, W Mauhin2, N Belmatoug3

  • 1Centre de compétence des maladies lysosomales de l'adulte, hôpital Joseph-Ducuing, 31076 Toulouse, France; Service de médecine interne, hôpital Joseph-Ducuing, 31076 Toulouse, France.

La Revue De Medecine Interne
|November 11, 2020
PubMed
Summary
This summary is machine-generated.

Fabry disease, a lysosomal storage disorder caused by alpha-galactosidase A deficiency, presents diverse symptoms and can be challenging to diagnose. Early recognition is crucial as effective treatments for this X-linked genetic condition are available.

Keywords:
Alpha-galactosidase AAngiokeratomaAngiokératomeDiagnosisDiagnosticEnzyme replacement therapyEnzymothérapie substitutiveFabry diseaseGLALyso-Gb3Maladie de FabryMigalastatTraitementTreatment

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Rare Diseases

Background:

  • Fabry disease is an X-linked lysosomal storage disorder due to alpha-galactosidase A deficiency.
  • It is a progressive, systemic condition affecting males and females with varied clinical presentations.
  • Classical symptoms include pain crises, kidney disease, and cardiomyopathy, but gastrointestinal and ear involvement are often overlooked.

Purpose of the Study:

  • To review the primary clinical manifestations of Fabry disease.
  • To propose a diagnostic algorithm for this complex genetic disorder.

Main Methods:

  • Literature review of Fabry disease clinical manifestations and diagnostic approaches.
  • Analysis of diagnostic challenges, particularly in females.

Main Results:

  • Fabry disease diagnosis is straightforward in males via enzyme activity assays.
  • Diagnosis in females is more complex due to potential normal enzyme activity, necessitating GLA gene analysis and biomarkers like lyso-globotriaosylceramide (lyso-Gb3).
  • Non-classical and late-onset forms present diagnostic challenges with delayed or single-organ symptoms.

Conclusions:

  • Early and accurate diagnosis of Fabry disease is essential for timely treatment initiation.
  • A structured diagnostic approach, incorporating enzyme assays, genetic testing, and biomarkers, is critical for effective management.