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Fabry disease (FD; Online Mendelian Inheritance in Man #301500) is a rare X-linked lysosomal storage disorder of glycosphingolipid metabolism caused by mutations in the alpha-galactosidase A gene (located at Xq22.1, >700 mutations described). These mutations result in the accumulation of globotriaosylceramide in virtually all cells of the body, including the skin, kidneys, nervous system and heart (cardiomyocytes, vascular endothelium, conduction tissue, valvular fibroblasts), thereby triggering fibrosis and resulting in organ dysfunction, debilitating symptoms and premature death.1
The prevalence of FD had been classically estimated at ∼1:80 000 to ∼1:117 000, but recent screening data have reported an incidence as high as 1:1500, with most of those likely to be late-onset variants.1 Men are usually more severely affected than women and at a younger age, with cardiovascular complications contributing substantially to disease-related morbidity and mortality. In heterozygous female patients, symptoms and vital organ damage develop about a decade later than in male patients, possibly due to X chromosome inactivation, with cardiovascular involvement being the leading cause of morbidity.1 ,2
Cardiac dysfunction is usually part of a multiorgan disease
In adults, the clinical presentation of FD is often a variable result of kidney, neurological and heart dysfunctions (table 1).1 LV hypertrophy is the most frequent cardiac sign, reported in 50% of men (usually in the third decade) and in over one-third of women (usually delayed by 10 years).3 Other cardiac abnormalities include LV diastolic dysfunction with, more rarely, global (and usually moderate) systolic dysfunction, RV hypertrophy, transmural myocardial fibrosis (seen as late enhancement in the basal posterolateral segments after gadolinium injection on MRI), chronotropic incompetence and/or conduction system disease …
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Provenance and peer review Commissioned; internally peer reviewed.
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