Fast Five Quiz: Fabry Disease

Helmi L. Lutsep, MD


April 02, 2021

Fabry disease can be divided into a classic phenotype (type 1), observed in patients without residual enzyme activity, and milder nonclassic forms (type 2), seen in patients with some residual enzyme activity. Classic Fabry disease causes long-term complications, such as hypertrophic cardiomyopathy, cardiac arrhythmias, renal failure, and stroke, whereas nonclassic Fabry disease is defined by a more variable disease course and patients may experience only single-organ involvement.

Males with the classic phenotype develop renal disease, usually by 35-45 years of age. In males with nonclassic disease, kidney involvement typically occurs in the fourth decade or later, and some patients do not develop renal failure at all. Only about 10%-15% of female patients with type 1 disease develop kidney failure; the percentage of females with type 2 disease who develop renal failure is unknown.

Learn more about classic Fabry disease.


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