Key result
Clinical evaluation of 100 patients with genetically proven Fabry disease revealed that classic textbook signs are misleading, with only 1 patient exhibiting a restrictive cardiac pattern.
Population
100 patients (47 male, 53 female, mean age 41 +/- 16 years) with genetically proven Fabry disease
Design
Cross-sectional
Authors
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Restrictive cardiomyopathy appears rare in genetically confirmed Fabry disease; challenges classic teaching and leaves open prospective validation of phenotypes.
Cohort (n=100)
Traditional terms used to describe Fabry disease symptoms (angiokeratoma, acroparaesthesia, restrictive cardiomyopathy) may be misleading and should be updated to reflect actual clinical presentations.
Weidemann et al. (2008) conducted a cohort in Fabry disease (n=100). Clinical evaluation of signs and symptoms was evaluated on Presence of classic Fabry disease signs and symptoms. Clinical evaluation of 100 patients with genetically proven Fabry disease revealed that classic textbook signs are misleading, with only 1 patient exhibiting a restrictive cardiac pattern.
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