Сlinical Case Of Fabry Disease

Abstract

The article describes the clinical observation of a case of a cardiac variant of Fabry disease (FD) in a 73-year-old patient diagnosed at the terminal stage. The features of the development and course of the disease, as well as the clinical symptoms and results of instrumental and laboratory studies, are described. FD is a rare genetically determined pathology that can affect men and women and manifest itself at different ages, regardless of race. FD is an X-linked storage disease that leads to impaired glycosphingolipid metabolism due to a deficiency of lysosomal α-galactosidase. In the absence of pathogenetic treatment, FD has a progressive course and leads to death, shortening the life of patients.