Fast Five Quiz: Fabry Disease Presentation and Diagnosis

Helmi L. Lutsep, MD

Disclosures

April 06, 2021

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.

Comments

3090D553-9492-4563-8681-AD288FA52ACE
Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.
Post as:

processing....