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

Am J Med. 2010 Jul;123(7):658.e1-658.e10. doi: 10.1016/j.amjmed.2009.12.022.

Abstract

Fabry disease is a rare X-linked storage disorder leading to an accumulation of globotriaosylceramides in all cells carrying lysosomes. As the accumulation occurs in most organs, different medical specialties are involved in the diagnostics and therapy of Fabry disease. With this review of the 3 main specialties (cardiology, nephrology, and neurology) and, in addition, the adjacent specialties (ophthalmology and dermatology), we aim to discuss the division-related responsibilities and want to suggest an organ-related additional therapy besides enzyme replacement therapy.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Enzyme Replacement Therapy
  • Eye Diseases, Hereditary / diagnosis
  • Eye Diseases, Hereditary / etiology
  • Eye Diseases, Hereditary / therapy
  • Fabry Disease / complications
  • Fabry Disease / diagnosis*
  • Fabry Disease / therapy*
  • Heart Diseases / diagnosis
  • Heart Diseases / etiology
  • Heart Diseases / therapy
  • Humans
  • Interdisciplinary Communication
  • Kidney Diseases / diagnosis
  • Kidney Diseases / etiology
  • Kidney Diseases / therapy
  • Kidney Transplantation
  • Magnetic Resonance Imaging
  • Nervous System Diseases / diagnosis
  • Nervous System Diseases / etiology
  • Nervous System Diseases / therapy
  • Patient Care Team*
  • Renal Dialysis
  • Skin Diseases, Genetic / diagnosis
  • Skin Diseases, Genetic / etiology
  • Skin Diseases, Genetic / therapy
  • Specialization