Identifying Fabry Disease Patients Through Cardiac Manifestations

Abstract

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.