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Diagnosis and Treatment of the Cardiovascular Consequences of Fabry Disease

Baig, S; Vijapurapu, R; Alharbi, F; Nordin, S; Kozor, R; Moon, J; Bembi, B; ... Steeds, RP; + view all (2019) Diagnosis and Treatment of the Cardiovascular Consequences of Fabry Disease. QJM: An International Journal of Medicine , 112 (1) pp. 3-9. 10.1093/qjmed/hcy120. Green open access

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Abstract

Fabry Disease (FD) has been a diagnostic challenge since it was first recognised in 1898, with patients traditionally suffering from considerable delay before a diagnosis is made. Cardiac involvement is the current leading cause of death in FD. A combination of improved enzyme assays, availability of genetic profiling, together with more organised clinical services for rare diseases, has led to a rapid growth in the prevalence of FD. The earlier and more frequent diagnosis of asymptomatic individuals before development of the phenotype has focussed attention on early detection of organ involvement and closer monitoring of disease progression. The high cost of enzyme replacement therapy at a time of constraint within many health economies moreover, has challenged clinicians to target treatment effectively. This article provides an outline of FD for the general physician and summarises the aetiology and pathology of FD, the cardiovascular (CV) consequences thereof, modalities used in diagnosis, and then discusses current indications for treatment, including pharmacotherapy and device implantation.

Type: Article
Title: Diagnosis and Treatment of the Cardiovascular Consequences of Fabry Disease
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1093/qjmed/hcy120
Publisher version: https://doi.org/10.1093/qjmed/hcy120
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: fabry disease, phenotype, pharmacotherapy, left ventricular hypertrophy, cardiovascular system, cause of death, disease progression, diagnosis, economics, genetics, pathology, enzyme replacement therapy, devices, medical, causality cardiovascular findings, early diagnosis, rare diseases, enzyme assays
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science > Clinical Science
URI: http://discovery.ucl.ac.uk/id/eprint/10051341
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