FABRY DISEASE - AN UNUSUAL CAUSE OF SEVERE CORONARY-DISEASE IN A YOUNG MAN

Fabry disease is an X-linked recessive disease resulting from deficient activity of alpha-galactosidse A. This deficiencY leads to the accumulation of glycosphingolipids in the lysosomes of vascular endothelial and smooth muscle cells. In classically affected men, skin manifestations begin by adolescence, and, with advancing age, vascular deposition in small vessels throughout the body leads to end-organ involvement of the kidney, heart, and brain. We report the case of a patient who had clinically significant coronary artery disease as the initial presentation of end-organ involvement and who was treated with bypass surgery.