Identifying Fabry Disease Patients Through Cardiac Manifestations

This satellite symposium took place on 27th August 2016 as a part of the European Society of Cardiology (ESC) Congress, in Rome, Italy

Chairperson: Aleš Linhart1
Speakers: Perry Elliott,2 Jean-Claude Lubanda,1 Christoph Kampmann (unable to attend)3

1. First Faculty of Medicine, Charles University and General University Hospital in Prague,
Prague, Czech Republic
2. Institute for Cardiovascular Science, University College London, London, UK
3. Center for Pediatric and Adolescent Medicine, University Medical Center,
University of Mainz, Mainz, Germany

Disclosure: Prof Linhart has received honoraria for speaking and consultancy from Shire, Genzyme (Sanofi-Aventis), Actelion, and Amicus Therapeutics, an educational grant from Shire, and is a board member of the Fabry Registry. Prof Elliott has received consultation fees from Shire, Pfizer, Gilead, Amicus, and MyoKardia. Assoc Prof Lubanda has received honoraria for speaking and consultancy, and travel grants from Shire. Prof Kampmann has received research grants and consultancy fees from Shire, Genzyme (Sanofi-Aventis), Biomarin, Amicus Therapeutics, GlaxoSmithKline, and Gore.
Acknowledgements: Writing assistance was provided by Dr Blair Hesp, CMPP, of ApotheCom.
Support: The symposium was sponsored by Shire. Authors received honoraria for preparation and delivery of their presentations. The views and opinions expressed are those of the authors and not necessarily of Shire.
Citation: EMJ Cardiol. 2016;4[1]:50-57.

Meeting Summary

The meeting’s objectives were to review the principles in diagnosing Fabry disease according to the European Society of Cardiology (ESC) guidelines on hypertrophic cardiomyopathy (HCM); to discuss the practical challenges in diagnosing Fabry disease in clinical practice; to investigate the long-term benefit of enzyme replacement therapy (ERT) for patients with Fabry disease; and to identify key patient populations with Fabry disease at risk of misdiagnosis.

Prof Aleš Linhart opened the symposium by highlighting that a significant number of cardiologists are not aware of Fabry disease and that the average time to diagnosis is >10 years.1 The need for treatment of rare cardiomyopathies was also discussed. Prof Perry Elliott reviewed the ESC guidelines on diagnosis and management of HCM, and how they apply to Fabry disease. Prof Linhart then outlined how these guidelines can practically be applied, using case studies to illustrate the challenges in accurately identifying patients with a potential diagnosis of Fabry disease. Prof Linhart then demonstrated the long-term benefits of ERT for patients diagnosed with Fabry disease observed in Mainz, Germany, on behalf of Prof Christoph Kampmann, while Assoc Prof Jean-Claude Lubanda highlighted key patient populations with an increased prevalence of Fabry disease who should be targeted for screening to improve therapy and clinical outcomes.

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