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Department-related tasks and organ-targeted therapy in Fabry disease: an interdisciplinary challenge

Frank Weidemann1, Claudia Sommer, Thomas Duning

  • 1Department of Medicine, Würzburg University Medical Center, Würzburg, Würzburg, Germany. weidemann_f@medizin.uni-wuerzburg.de

The American Journal of Medicine
|July 9, 2010
PubMed

Insights

Fabry disease, a rare genetic disorder, causes globotriaosylceramide buildup. This review examines multidisciplinary care, including cardiology, nephrology, and neurology, to improve patient outcomes.

Area of Science:

  • Genetics and rare diseases
  • Metabolic disorders
  • Multidisciplinary medical care

Background:

  • Fabry disease is a rare X-linked lysosomal storage disorder.
  • It results from globotriaosylceramide accumulation in cells.
  • This accumulation affects multiple organs, necessitating diverse medical expertise.

Purpose of the Study:

  • To review the roles of cardiology, nephrology, and neurology in Fabry disease management.
  • To highlight the importance of adjacent specialties like ophthalmology and dermatology.
  • To propose organ-specific therapies complementing enzyme replacement therapy.

Main Methods:

  • Literature review focusing on Fabry disease diagnostics and therapeutics.
  • Analysis of responsibilities across different medical specialties.
  • Synthesis of current treatment strategies and potential adjunctive therapies.

Main Results:

  • Fabry disease impacts multiple organ systems, requiring coordinated care.
  • Cardiology, nephrology, and neurology are central to management.
  • Ophthalmology and dermatology offer valuable diagnostic and therapeutic insights.

Conclusions:

  • Integrated, multidisciplinary care is crucial for effective Fabry disease management.
  • Tailored, organ-specific treatments can enhance outcomes beyond enzyme replacement therapy.
  • Further research into adjunctive therapies is warranted to optimize patient care.

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