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Fabry disease: will markers of early disease enable early treatment and better outcomes?

Hughes, DA; (2016) Fabry disease: will markers of early disease enable early treatment and better outcomes? Current Opinion in Cardiology , 31 (4) pp. 434-439. 10.1097/HCO.0000000000000308. Green open access

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Abstract

PURPOSE OF REVIEW: This review explores the clinical and pathological features of Fabry disease. New modalities of imaging, biomarkers and long-term treatment effects are discussed. RECENT FINDINGS: Fabry disease is clinically heterogeneous, and in women the clinical severity has recently been linked to skewing of X-inactivation. Two phenotypes have been described, one with early onset manifestation including pain and one with later onset single organ manifestations; however, the cardiac outcomes in these two groups appear similar. Fibrosis is found in renal and cardiac tissues on biopsy and appears to be a critical point in the pathology of Fabry disease after which response to enzyme replacement therapy is more limited. In-vitro studies have suggested that lyso-globotriaosylceramide may have an important role in the generation of fibrosis. Imaging, including cardiac magnetic resonance imaging, may have a role in detection of early stages of the disease. Long-term outcomes for patients treated with enzyme replacement therapy are now being described with some suggestion that patients treated at earlier points in the disease course may have better outcomes. SUMMARY: Recent advances in understanding pathology, disease processes and treatment effects may enable future rational targeting of treatment with improved outcomes.

Type: Article
Title: Fabry disease: will markers of early disease enable early treatment and better outcomes?
Open access status: An open access version is available from UCL Discovery
DOI: 10.1097/HCO.0000000000000308
Publisher version: http://dx.doi.org/10.1097/HCO.0000000000000308
Language: English
Additional information: Copyright © 2016 Wolters Kluwer Health, Inc. All rights reserved. This is the accepted manuscript version made available under the terms of the Creative Commons Attribution – Non-Commercial (CC BY-NC) license (http://creativecommons.org/licenses/by-nc/4.0/). The published version is available on the journal website at http://dx.doi.org/10.1097/HCO.0000000000000308
Keywords: Fabry disease; enzyme; lysosomal storage; hypertrophy; fibrosis
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 Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Haematology
URI: https://discovery.ucl.ac.uk/id/eprint/1485776
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