PMID: 25726623Mar 3, 2015Paper

Fabry disease--a primer for cardiologists

Romanian Journal of Internal Medicine = Revue Roumaine De Médecine Interne
Adriana MursăRuxandra Jurcut

Abstract

Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency. It is a systemic disease mostly affecting the kidneys, the heart and the brain. Cardiac involvement often presents as concentric nonobstructive left ventricular hypertrophy and is a differential to be taken into account by cardiologists. This review describes the most important systemic features, but mostly highlights the cardiac involvement. Patients with known Fabry disease should be screened early for cardiac involvement, as treatment benefit may not be seen once cardiac fibrosis has developed. Screening for Fabry can be effective among individuals with end-stage renal disease, unexplained cardiac hypertrophy or strokes in young people with no apparent predisposing factors. Enzyme replacement therapy reverses metabolic and various pathologic abnormalities and should be initiated in all patients with symptomatic Fabry disease.

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