Fabry disease (Anderson-Fabry disease) is an X-linked recessive lysosomal srorage disorder resulting from the inadequate activity of lysosomal hydrolase (alpha-galactosidase A), leading to progressive accumulation of globotriosylceramide (Gb3) in various cells, predominantly endothelial cells and smooth muscle cells of the vessels, with the damage of various organs. Fabry disease is manifested by progressive renal and heart failure, neuropathic pain, strokes, skin and gastrointestinal symptoms. Clinical manifestations begin in childhood, but in many patients it is diagnosed only in the adulthood. This review presents all the main aspects of the disease: epidemiology, pathophysiology, clinical manifestations in various systems, diagnosis, treatment, prevention, and impact on quality of life.

Keywords: disease, Fabry, Anderson, agalsidase alfa, agalsidase beta