EDITORIALS
Treatment of Anderson–Fabry disease
Correspondence to:
Professor A Linhart, U Nemocnice 2, Prague 2, 12808 Czech Republic; ales.linhart@vfn.cz
| The first 150 words of the full text of this article appear below. |
Anderson–Fabry disease (AFD) (OMIM 301500
[OMIM]
), is an X-linked, metabolic disorder characterised by a defect in the degradation of glycosphingolipids with terminal 
-galactose residues that leads to progressive intralysosomal accumulation of globotriaosylceramide (Gb3) in various tissues of the human body (mainly skin, nervous system, eye, kidney and heart). The underlying cause is a mutation in the gene encoding the lysosomal enzyme -galactosidase A. The multisystemic involvement in classically affected men leads to premature death during the fourth or fifth decade due to renal failure, cerebrovascular and cardiac complications. Heterozygous female patients may have a wide range of disease severity, ranging from a relatively benign course to manifestations comparable with those of hemizygous men.1
Cardiovascular involvement is complex as Gb3 storage occurs in a wide spectrum of myocardial tissues, including endothelial cells and vessel walls, cardiomyocytes, conduction system cells and valvular fibroblasts. Main clinical manifestations include left ventricular hypertrophy associated
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