Juste Danieliute

Anderson-Fabry disease (AFD) is a X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes α-galactosidase A, what causes intracellular accumulation of globotriaosylceramide. The main manifestations of AFD are pain attacks, acroparasthesias, cutaneous angiokeratomas, hypohydrosis, kidney, heart and cerebrovascular disorders. Late life-threatening complications include cardiomyopathy, cerebrovascular disease and renal injury. Fabry nephropathy may not appear with clinical signs and symptoms in childhood, but in the older adulthood occurs with significant proteinuria which leads to terminal kidney disease. Proteinuria, hypertension, high level of serum creatinine and low glomerular filtration rate are the main symptoms of progressive kidney disease. Adequate blood pressure control is recommended as proteinuria appears to be correlated with systemic blood pressure in both sexes. Fabry nephropathy treatment focus on control of hypertension, lipids and protein...

Anderson-Fabry disease (AFD) is a X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes α-galactosidase A, what causes intracellular accumulation of globotriaosylceramide and due to this – progressive renal, cardiac and cerebrovascular disease. Whereas men experience the most severe clinical phenotype, clinical presentation in women because of X chromosome inactyvation varies from asymptomatic to severely symptomatic. The most common cardiac manifestations in AFD are left ventricular hypetrophy (LVH), coronary heart disease, conduction system disorders, which causes congestive heart insufficiency, arrhythmias and premature myocardial infarction. Heart disease is the main cause of death in Fabry patients. Electrocardiography, echocardiography, cardiac magnetic resonance, tissue doppler imaging and endomyocardial biopsy are the main Fabry cardiomyopahy diagnostic methods, however the gold standart in AFD diagnosis making is genetic testing. Recent studies show that coronary microvascular dysfunction (CMD) can be the most important factor, that determines LVH and CMD may represent the only sign of cardiac involvement in AFD patients. Interest is now focused on whether Enzyme Replacement Therapy (ERT) can slow or prevent the onset of Fabry cardiomyopathy manifestations with earlier diagnosis and treatment, however recent papers show that ERT may have only minimal effect on symptoms and cardiovascular morphology and function in established AFD.