AN ATYPICAL VARIANT OF FABRYS-DISEASE WITH MANIFESTATIONS CONFINED TO THE MYOCARDIUM

Fabry's disease is an X-linked recessive disorder resulting from deficient activity of the lysosomal hydrolase α-galactosidase A.1-3 The enzymatic defect leads to the progressive accumulation of neutral glycosphingolipids with terminal α-galactosyl moieties (particularly globotriaosylceramide) in the lysosomes of vascular endothelial and smooth-muscle cells throughout the body. In classically affected males, who have no detectable α-galactosidase A activity, the onset of disease manifestations occurs in childhood or adolescence and is characterized by severe acroparesthesias, angiokeratoma, corneal opacities, and hypohidrosis. The cardiac manifestations result from the accumulation of globotriaosylceramide in the myocytes, leading to myocardial failure; in coronary endothelial cells, resulting. © 1991, Massachusetts Medical Society. All rights reserved.