Diagnosis and Screening of Patients with Fabry Disease

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, Reckling...

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Autores principales:	Vardarli I, Rischpler C, Herrmann K, Weidemann F
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2020
Materias:	metabolic disease genetics hypertrophic cardiomyopathy proteinuria algorithm heart failure Therapeutics. Pharmacology RM1-950
Acceso en línea:	https://doaj.org/article/630a220a1f554e54aa2bacc528dd0f48
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spelling	oai:doaj.org-article:630a220a1f554e54aa2bacc528dd0f482021-12-02T11:52:40ZDiagnosis and Screening of Patients with Fabry Disease1178-203Xhttps://doaj.org/article/630a220a1f554e54aa2bacc528dd0f482020-06-01T00:00:00Zhttps://www.dovepress.com/diagnosis-and-screening-of-patients-with-fabry-disease-peer-reviewed-article-TCRMhttps://doaj.org/toc/1178-203XIrfan 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, GermanyCorrespondence: Irfan VardarliDepartment of Medicine I, Klinikum Vest, Knappschaftskrankenhaus Recklinghausen, Academic Teaching Hospital, Ruhr-University Bochum, Dorstener Str. 151, Recklinghausen 45657, GermanyTel +49 2361 563406Fax +49 2361 563498Email irfan.vardarli@alumni.uni-heidelberg.deAbstract: 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 failureVardarli IRischpler CHerrmann KWeidemann FDove Medical Pressarticlemetabolic diseasegeneticshypertrophic cardiomyopathyproteinuriaalgorithmheart failureTherapeutics. PharmacologyRM1-950ENTherapeutics and Clinical Risk Management, Vol Volume 16, Pp 551-558 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	metabolic disease genetics hypertrophic cardiomyopathy proteinuria algorithm heart failure Therapeutics. Pharmacology RM1-950
spellingShingle	metabolic disease genetics hypertrophic cardiomyopathy proteinuria algorithm heart failure Therapeutics. Pharmacology RM1-950 Vardarli I Rischpler C Herrmann K Weidemann F Diagnosis and Screening of Patients with Fabry Disease
description	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, GermanyCorrespondence: Irfan VardarliDepartment of Medicine I, Klinikum Vest, Knappschaftskrankenhaus Recklinghausen, Academic Teaching Hospital, Ruhr-University Bochum, Dorstener Str. 151, Recklinghausen 45657, GermanyTel +49 2361 563406Fax +49 2361 563498Email irfan.vardarli@alumni.uni-heidelberg.deAbstract: 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
format	article
author	Vardarli I Rischpler C Herrmann K Weidemann F
author_facet	Vardarli I Rischpler C Herrmann K Weidemann F
author_sort	Vardarli I
title	Diagnosis and Screening of Patients with Fabry Disease
title_short	Diagnosis and Screening of Patients with Fabry Disease
title_full	Diagnosis and Screening of Patients with Fabry Disease
title_fullStr	Diagnosis and Screening of Patients with Fabry Disease
title_full_unstemmed	Diagnosis and Screening of Patients with Fabry Disease
title_sort	diagnosis and screening of patients with fabry disease
publisher	Dove Medical Press
publishDate	2020
url	https://doaj.org/article/630a220a1f554e54aa2bacc528dd0f48
work_keys_str_mv	AT vardarlii diagnosisandscreeningofpatientswithfabrydisease AT rischplerc diagnosisandscreeningofpatientswithfabrydisease AT herrmannk diagnosisandscreeningofpatientswithfabrydisease AT weidemannf diagnosisandscreeningofpatientswithfabrydisease
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Diagnosis and Screening of Patients with Fabry Disease

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