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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Nomen est omen. Fabry disease
F Weidemann1, C Wanner, F Breunig
1Department of Medicine/Nephrology, University of Würzburg, Josef-Schneider Str. 2, D 20, 97080 Wuerzburg, Germany. weidemann_f@medizin.uni-wuerzburg.de
Abstract:
A 47-year-old woman was referred with increasing dyspnoea and neuropathic pain. During echocardiography, she showed the typical signs for a Fabry cardiomyopathy: global left ventricular function was normal with an ejection fraction of 65%. She had a concentric left ventricular hypertrophy with very prominent papillary muscles. In addition, the magnetic resonance tomography showed regional late enhancement in the postero-lateral wall which is the typical location of fibrosis in Fabry patients. She suffered from a genetically proven Fabry disease, and interestingly her family name is Mrs Fabry. Thus summarized, Mrs Fabry with a confirmed Fabry disease presented with a typically Fabry cardiomyopathy.
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