Finding Fabry: a survey on missed opportunities for detection and diagnosis of Fabry disease in patients with LVH

Fabry disease (FD), resulting from alpha-galactosidase A enzyme deficiency, remains underdiagnosed despite readily available methods for diagnosis. This multi-centre prospective survey across six tertiary centres aimed to determine the level of consideration of FD in patients presenting with left ventricular hypertrophy (LVH). LVH was defined according to the guidelines of the European Society of Cardiology (ESC) and the American College of Cardiology/American Heart Association (ACC/AHA) for the management of cardiomyopathies, where LVH is diagnosed if the left ventricular wall thickness exceeds 15 mm in any segment or exceeds 13 mm in the presence of a known diagnosis in a first-degree relative. Of 143 patients surveyed, only three with LVH underwent diagnostic testing for FD, all testing negative. Moreover, 44% of patients with LVH had an ambiguous aetiology, highlighting possible missed FD diagnostic opportunities. A discrepancy was observed between electrocardiogram (ECG) results and echocardiography or cardiac magnetic resonance (CMR) in diagnosing LVH, emphasising the need for comprehensive cardiac imaging. This project highlights the urgent requirement to amplify FD awareness, especially in patients with LVH, to ensure early intervention and better patient outcomes.