Anderson-Fabry disease is congenital deficiency in α-galactosidase A activity leading to intra-lysosomal accumulation of neutral glycosphingolipids. (1, 2) Patients with this disease are unable to catalyze neutral glycosphingolipids, mainly globotriaosylceramide (Gb3), which re then accumulating in various organ systems, heart, skin, kidney, blood vessels, and central nervous system. The disease is an X-linked LSD inherited recessively. Characteristic symptoms and sings of Fabry disease include angiokeratoma (vascular skin lesions), acroparesthesiae (periodic painful crises in limbs), hypohidrosis (inability to sweat) and characteristic clouding of cornea. Disease occurs at birth, during childhood is usually of no clinical relevance, with organ defects obvious during fourth decade of life in men and fifth decade in women.

Cardiac manifestations of the disease are result of s associated with Gb3 accumulation in all cellular components of the heart, including cardiomyocytes, conduction system cells, valvular fibroblasts, endothelial cells and vascular smooth muscle cells, resulting in hypertrophic cardiomyopathy of the left or both ventricles. In advanced stage of the disease, changes in heart muscle can lead to the heart attack, cardiomyopathy and conductive disorders. Echocardiography is an excellent non-invasive diagnostic tool for diagnosis of Fabry disease (left increased left ventricular wall thickness, valvular changes, cardiac chambers quantitation).

Cooperation of physicians and nurses is imperative for optimal echocardiographic imaging, detection and monitoring of the disease. In patients with clinical suspicion of Fabry disease, nurse performs venepunction or take blood capillary. After drying, samples are sent for analysis of enzymatic activity and genetic testing. After diagnosis of Fabry disease, patient comes to therapy every two weeks. Enzyme control is performed every three months in order to monitor the effect of therapy. Monitoring of the disease includes ultrasonography, biomarkers (GL3, Lyso GL3) and antibodies during the application of enzyme substitution therapy.