Diagnosis and Screening of Patients with Fabry Disease

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by absence or deficient activity of α-galactosidase A (α-Gal A) due to mutations in the α-galactosidase A gene (GLA), leading to progressive accumulation of globotriaosylceramide (Gb3) in tissues and organs including heart, kidney,...

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Bibliographic Details
Published in:Therapeutics and clinical risk management 2020-01, Vol.16, p.551-558
Main Authors: Vardarli, Irfan, Rischpler, Christoph, Herrmann, Ken, Weidemann, Frank
Format: Article
Language:English
Subjects:
algorithm
Biomarkers
Cardiomyopathy
Enzymes
Females
Genetic counseling
genetics
Genotype & phenotype
Heart failure
hypertrophic cardiomyopathy
Magnetic resonance imaging
Males
Medical diagnosis
metabolic disease
Mutation
proteinuria
Review
Stroke
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Summary:Fabry disease (FD) is an X-linked lysosomal storage disorder caused by absence or deficient activity of α-galactosidase A (α-Gal A) due to mutations in the α-galactosidase A gene (GLA), leading to progressive accumulation of globotriaosylceramide (Gb3) in tissues and organs including heart, kidney, the eyes, vascular endothelium, the nervous system and the skin. Cardiac involvement is leading to fatal complications and reduced life expectancy. FD is treatable with disease-specific treatment (enzyme replacement therapy (ERT) or with chaperone therapy). Therefore, the early diagnosis of FD is crucial for reducing the morbidity and mortality. Screening of high-risk populations (eg, patients with unexplained left ventricular hypertrophy (LVH), young patients with unexplained stroke, and patients with unexplained renal failure proteinuria or microalbuminuria) yields good results. The diagnostic algorithm is gender-specific. Initially, the measurement of α-Gal A activity is recommended in males, and optionally in females. In males with non-diagnostic residual activity (5– 10%) activity, genetic testing is afterwards done for confirming the diagnosis. In fact, diagnosis of FD is not possible without genetic testing for both males and females. Globotriaosysphingosine (lyso-Gb3) for identification of atypical FD variants and high- sensitive troponin T (hsTNT) for identification of cardiac involvement are also important diagnostic biomarkers. The aim of this review was to provide an update on diagnosis and screening of patients with FD.
ISSN:1178-203X
1176-6336
1178-203X
DOI:10.2147/TCRM.S247814