Fabry disease is an irreversible, relentlessly progressive disease, the burden of which accumulates over time. Desnick RJ, Ioannou YA, Eng CM. α-galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill, 2001:3733–74. Early diagnosis facilitates appropriate monitoring and management of clinical manifestations of the disease, thus helping to prevent late complications/organ damage. Eng CM, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genetics Med 2006; 2006;8:539–48.
Disease management strategies may include medications and lifestyle approaches to symptom relief, as well as interventions to treat serious complications due to organ damage (e.g. kidney transplantation, cardiac pacemaker insertion). The major approach to address the underlying pathophysiology is enzyme replacement therapy (ERT).
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