Key result
Early recognition of Fabry disease and initiation of enzyme replacement therapy are crucial to limit the progression of cardiac manifestations such as left ventricular hypertrophy.
Why the study?
Delay in diagnosis and untimely initiation of treatment remain critical problems in Fabry disease, where early recognition is crucial to limit disease progression.
Design
Literature review
Authors
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Supports Fabry screening in unexplained LVH; leaves open prospective trials on enzyme replacement timing and outcomes.
Early diagnosis and multidisciplinary management, including enzyme replacement therapy, are essential for improving outcomes and preventing irreversible cardiac damage in patients with Fabry disease.
Rudenko et al. (2022) conducted a review in Fabry Disease. Enzyme replacement therapy was evaluated. Early recognition of Fabry disease and initiation of enzyme replacement therapy are crucial to limit the progression of cardiac manifestations such as left ventricular hypertrophy.
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