Clinical case of Fabry disease: an interesting finding in cardiac surgery patient

Abstract

Fabry disease is a lysosomal storage disorder, linked to X chromosome, leading to disruption of glycosphingolipid metabolism due to deficiency of lysosomal α-galactosidase A. The cascade of pathological processes can eventually lead to damage of different organs and systems including cardiovascular system. However, due to polymorphism of clinical manifestations, this disease often remains undiagnosed or diagnosed at terminal multiorgan failure stage. Existing clinical guidelines for management of patients with Fabry disease emphasize the importance of early diagnosis for initiation of specific therapy, as well as need for multidisciplinary approach in treatment of such patients.