Серцеві прояви хвороби Фабрі

The article focuses on Fabry disease, a rare genetic disorder caused by a deficiency of the enzyme -galactosidase A ( -Gal A) due to mutations in the GLA gene. It examines the disease›s mechanisms, particularly the accumulation of globotriaosylceramide (Gb3) in cells, leading to dysfunction, inflammation, and damage of different organs. The article describes the different phenotypes of the disease: the classic form, which presents with early onset and severe progression, and the non-classic form, which primarily manifests as cardiac complications. Diagnostic methods, especially for detecting cardiovascular manifestations, are discussed in detail. The article also outlines current treatment approaches, including enzyme replacement therapy, chaperone therapy, and symptomatic management.