Fabry disease is a rare X‐linked lysosomal storage disorder characterized by alpha-galactosidase deficiency. Throughout its course, glycosphingolipids accumulate in cells throughout the body (autonomic ganglia; dorsal root ganglia; renal glomerular, tubular, and interstitial cells; cardiac muscle cells; vascular smooth muscle cells; vascular and lymphatic endothelial cells in the cornea; valvular fibrocytes; and cardiac conduction fibers), resulting in progressive multiorgan failure. The diagnosis of Fabry disease can be challenging because its signs and symptoms are often nonspecific, and manifestations in different organs can distract from a unifying diagnosis.
Would you be able to diagnose this lysosomal disorder? Test your knowledge with this quick quiz.
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Cite this: Helmi L. Lutsep. Fast Five Quiz: Fabry Disease Presentation and Diagnosis - Medscape - Apr 06, 2021.