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Imaging features of Fabry disease

Olivier Lidove1, Isabelle Klein, Jean-Daniel Lelièvre

  • 1Department of Internal Medicine, Hôpital Bichat Claude-Bernard, 46 rue Henri Huchard, 75722 Paris, Cedex 18, France.

AJR. American Journal of Roentgenology
|March 24, 2006
PubMed

Insights

Radiologists can identify imaging patterns of Fabry disease (a genetic disorder) affecting various organs. Early diagnosis aids in timely enzyme replacement therapy and monitoring treatment effectiveness.

Area of Science:

  • Medical imaging
  • Genetics
  • Metabolic disorders

Background:

  • Fabry disease is an X-linked genetic disorder caused by deficient alpha-galactosidase A activity.
  • This deficiency leads to glycosphingolipid accumulation, affecting multiple organs.
  • Men typically exhibit more severe complications than heterozygous women.

Purpose of the Study:

  • To detail the diverse imaging manifestations of Fabry disease.
  • To highlight involvement in cerebrovascular, renal, cardiac, and other organ systems.
  • To emphasize the role of imaging in disease management.

Main Methods:

  • Review of imaging findings in patients with Fabry disease.
  • Correlation of imaging patterns with clinical presentation.
  • Analysis of organ-specific involvement.

Main Results:

  • Characteristic imaging patterns were observed across cerebrovascular, renal, and cardiac systems.
  • Other organ systems also demonstrated specific imaging abnormalities.
  • Imaging findings varied in severity between affected individuals.

Conclusions:

  • Radiologists play a crucial role in diagnosing Fabry disease through characteristic imaging findings.
  • Early diagnosis facilitates prompt initiation of enzyme replacement therapy.
  • Imaging is essential for monitoring the efficacy of treatment interventions.
Abstract

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