Article
Looking for Fabry, Finding More: LVH Screening Yields Unexpected Gaucher Diagnosis.
Medical sciences (Basel, Switzerland) - 1 Sept 2025
Szczepara Sylwia, Pacia Klaudia, Trojanowicz Katarzyna, Bielecka Klaudia, Tworek Michał, Sachajko Zuzanna, Holcman Katarzyna, Podolec Piotr, Komar Monika
Abstract excerpt
OBJECTIVE: Fabry disease (FD) is a rare, X-linked lysosomal storage disorder resulting from deficient α-galactosidase A activity, which can manifest as left ventricular hypertrophy (LVH). We aimed to assess the prevalence of FD in an unselected cohort of patients with unexplained LVH. METHODS AND RESULTS: We screened 202 unrelated adults with LVH using enzymatic assays for α-galactosidase A in dried blood spots....
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