Fast Five Quiz: Fabry Disease

Helmi L. Lutsep, MD


April 02, 2021

Guidelines recommend that in adult men and women with later-onset Fabry mutations or missense GLA VUS, ERT should be considered if there is biochemical, histologic, or imaging evidence of injury to the kidney, heart, or central nervous system attributable to Fabry disease — even if the patient does not show other symptoms of Fabry disease.

Also according to guidelines, individuals with later-onset Fabry mutations or missense GLA VUS who have well-characterized benign GLA polymorphisms should not be treated with ERT.

ERT stabilizes and may slow progression of Fabry disease, with more benefit conferred when initiated at an early age. Specifically, agalsidase alfa (Replagal) and agalsidase beta (Fabrazyme) have been shown to be effective in normalizing renal function, cardiac function, and cerebrovascular flow. Because early renal failure primarily results from GL-3 accumulation in endothelial and glomerular cells, stabilizing or reversing the renal pathology is the goal of much therapeutic research.

Learn more about treatment of Fabry disease.

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