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Therapeutic goals in the treatment of Fabry disease.

AbstractPURPOSE:
Fabry disease is a progressive multiorgan, multisystem disorder that is caused by a deficiency in the lysosomal enzyme α-galactosidase A. Serious renal, cardiac, and cerebrovascular involvement are responsible for much of the morbidity and premature mortality associated with Fabry disease, and neuropathic pain, gastrointestinal problems, and hypohidrosis negatively affect quality of life of patients with Fabry disease. Fabry disease is X-linked, but women are often symptomatic and may be as severely affected as men.
METHODS:
We propose a series of therapeutic and symptomatic goals for use in setting the expectations of enzyme replacement therapy and for assessing the response to enzyme replacement therapy in the treatment of Fabry disease.
RESULTS:
Enzyme replacement therapy has been available since 2001 and has been associated with benefit in clinical trials, including stabilization of kidney function, improvement of cardiac structure and function, reduction in severity of neuropathic pain, and improvement in gastrointestinal involvement.
CONCLUSIONS:
The presentation of these therapeutic goals will aid in the evaluation of response to enzyme replacement therapy and be useful in establishing an overall management plan for individual patients.
AuthorsAtul Mehta, Michael L West, Guillem Pintos-Morell, Ricardo Reisin, Kathy Nicholls, Luis E Figuera, Rossella Parini, Luiz R Carvalho, Christoph Kampmann, Gregory M Pastores, Olivier Lidove
JournalGenetics in medicine : official journal of the American College of Medical Genetics (Genet Med) Vol. 12 Issue 11 Pg. 713-20 (Nov 2010) ISSN: 1530-0366 [Electronic] United States
PMID20975569 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Topics
  • Cardiovascular Diseases (drug therapy, etiology)
  • Clinical Trials as Topic
  • Enzyme Replacement Therapy
  • Fabry Disease (complications, drug therapy, physiopathology)
  • Female
  • Gastrointestinal Diseases (drug therapy, etiology)
  • Hearing Loss (drug therapy, etiology)
  • Humans
  • Kidney Diseases (drug therapy, etiology)
  • Male
  • Neuralgia (drug therapy, etiology)
  • Quality of Life

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