Fabry's disease: Difference between revisions

	Fabry's disease Microchapters
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Revision as of 19:05, 22 August 2012

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]

Synonyms and keywords: Anderson-Fabry disease; angiokeratoma corporis diffusum universale; alpha-galactosidase A deficiency; ceramide trihexosidase deficiency; hereditary dystopic lipidosis; GLA deficiency; Sweeley-Klionsky disease

Overview

Historical Perspective

Classification

Pathophysiology

Epidemiology and Demographics

Diagnosis

Treatment

Until recently, treatment of Fabry's disease targeted the symptomatic effects. However, it is currently being treated at the cellular level through enzyme replacement therapy using Agalsidase alpha (Replagal) and Agalsidase beta (Fabrazyme®).

References

External links

Fabry Support & Information Group
Template:NINDS
Fabry's disease at NLM Genetics Home Reference
Fabry's Disease Association

Template:WikiDoc Sources

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 ==Treatment==
 *Until recently, treatment of Fabry's disease targeted the [[symptomatic]] effects.  However, it is currently being treated at the cellular level through enzyme replacement therapy using [[Agalsidase alpha]] (Replagal) and [[Agalsidase beta]] (Fabrazyme®).
-*The cost of these drugs is problematic (approximately $170,000 US a year/patient) and remains a barrier to many patients in some countries. Enzyme replacement therapy (typically infused every two weeks) may be performed in the patient's home by the patients themselves. Enzyme replacement therapy is not a cure, and must be infused recurrently for maximum benefit.
 ==References==