Official journal of the Slovak Society of Cardiology,
Slovak Society of Hypertension and Slovak Association for Cardiac Arrhythmias

Cardiology Letters 2012, 21(5):381-387

Fabry disease

Solík P, Lesný P, Luknár M, Varga I, Gonçalvesová E
Oddelenia zlyhávania a transplantácie srdca, Národný ústav srdcových a cievnych chorôb a.s. v Bratislave, Slovenská republika

Fabry disease is a progressive multisystem disease. It belongs among the rare, inherited, metabolic, so called lysosomal diseases. The essence of the disease is the mutation of a gene located on the long arm of the X-chromosome encoding the lysosomal enzyme alpha-galactosidase A. Partial or complete lack of activity of this enzyme results in the accumulation of glycosphingolipids fission products in the lysosomes of various cells. Affected are particularly endothelial cells, and therefore one of the main manifestations of the disease includes cardiovascular problems. Without treatment, the prognosis of patients is unfavourable and it is being understood that the prognosis is worse for men than women. The causes of death are mainly cardiovascular events and renal failure. The enzyme replacement therapy brings a significant improvement in prognosis of patients.

Keywords: Fabry disease; lysosomal diseases; angiokeratomas; myocardial hypertrophy; enzyme replacement therapy

Published: May 1, 2012  Show citation

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Solík P, Lesný P, Luknár M, Varga I, Gonçalvesová E. Fabry disease. Cardiology Letters. 2012;21(5):381-387.
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