Fabry disease (or Anderson-Fabry disease) is due to the partial or total absence of the activity of the enzyme alpha-galactosidase A, which is responsible for the degradation of globotriaosylceramide (GL-3 or GB3). As this fatty substance cannot be eliminated, it accumulates and causes malfunctioning of the sites where it is deposited, affecting blood vessels, heart, kidneys, liver, skin and brain tissue. The main cardiac condition is left ventricular hypertrophy. Many of these patients are referred to doctors with a diagnosis of hypertrophic cardiomyopathy (in fact, Fabry disease is the cause in 0.5%-1% of patients with hypertrophic cardiomyopathy).

1 gene

The disease is inherited following an X-chromosome pattern and therefore affects men more frequently than women (who may be affected, although usually by a later and milder form). Estimated 1/50,000 males 1/100,000 people

As Fabry disease is rare and causes a wide range of symptoms, it can be confused with other diseases. Therefore, patients with Fabry disease may go long periods without a correct diagnosis. Early diagnosis of Fabry disease is essential as specific treatments are now available

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