Fabry disease is an X-linked lysosomal disorder which results in excessive deposition of neutral glycosphingolipids in the vascular endothelium of multiple organs as well as in epithelial and smooth muscle cells. The progressive endothelial accumulation of glycosphingolipids characteristic of the disease can lead to clinical abnormalities of the skin, eye, kidney, heart, brain, and peripheral nervous system. The prevalence of Fabry disease is estimated to be 1 per 40,000 people; although the disease is uncommon, it is thought to be underdiagnosed among patients with cryptogenic stroke.
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Cite this: Helmi L. Lutsep. Fast Five Quiz: Fabry Disease - Medscape - Apr 02, 2021.