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Diagnosis and Screening of Patients with Fabry Disease

Authors Vardarli I, Rischpler C, Herrmann K, Weidemann F

Received 31 January 2020

Accepted for publication 9 May 2020

Published 22 June 2020 Volume 2020:16 Pages 551—558

DOI https://doi.org/10.2147/TCRM.S247814

Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Editor who approved publication: Professor Garry Walsh


Irfan Vardarli,1,2 Christoph Rischpler,3 Ken Herrmann,3 Frank Weidemann1,2

1Department of Medicine I, Klinikum Vest, Knappschaftskrankenhaus Recklinghausen, Academic Teaching Hospital, Ruhr-University Bochum, Recklinghausen, Germany; 2Herz- Und Gefäßzentrum Klinikum Vest, Recklinghausen, Germany; 3Department of Nuclear Medicine, University Hospital Essen, Essen, Germany

Correspondence: Irfan Vardarli
Department of Medicine I, Klinikum Vest, Knappschaftskrankenhaus Recklinghausen, Academic Teaching Hospital, Ruhr-University Bochum, Dorstener Str. 151, Recklinghausen 45657, Germany
Tel +49 2361 563406
Fax +49 2361 563498
Email irfan.vardarli@alumni.uni-heidelberg.de

Abstract: 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.

Keywords: metabolic disease, genetics, hypertrophic cardiomyopathy, proteinuria, algorithm, heart failure


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