Vol 15, No 2 (2020)
Case report
Published online: 2020-03-28
Fabry disease - a long way to diagnosis in 43-year-old patient. "Dr. Google" is not always so bad ...
DOI: 10.5603/FC.2020.0023
Folia Cardiol 2020;15(2):169-172.
Abstract
Fabry disease (FD, Fabry Disease) is a rare genetic disease that leads to the accumulation of sphingolipids in cells due to the lack or deficiency of the alpha-galactosidase (alpha-GAL), lysosomal enzyme.Hypertrophic cardiomyopathy is a very common symptom of FD and should be included in differential cardiological diagnostics. Available in Poland drug program for FD - enzyme replacement therapy has documented effectiveness. Starting treatment at an early stage delays or eliminates the symptoms, while at severe disease leads to regression of myocardial hypertrophy [1-2]. We report a case study of patient who was diagnosed unsuccessfully for over three decades by doctors of many specialties .Diagnosis, thanks to the skin and cardiological manifestation, owes his persistence and Internet search engine.
Keywords: Fabry diseasecardiomyopathykeratomasparesthesia.
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