2018/06/04 by Shanat Baig, Ravi Vijapurapu, Fahad Alharbi +6 · 17 citations
Medicine · #Lysosomal Storage Disorders Research #Glycogen Storage Diseases and Myoclonus #Trypanosoma species research and implications #Enzyme replacement therapy #Fabry disease #Medicine #Disease #Asymptomatic #Intensive care medicine #Pharmacotherapy #Modalities #Etiology #Genetic diagnosis #Pediatrics #Pathology #Internal medicine
paper · pdf · doi:10.1093/qjmed/hcy120
published in QJM 112(1), 3-9 (Oxford University Press)
openalex publication_date 2018/06/04 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28
Fabry disease (FD) has been a diagnostic challenge since it was first recognized in 1898, with patients traditionally suffering from considerable delay before a diagnosis is made. Cardiac involvement is the current leading cause of death in FD. A combination of improved enzyme assays, availability of genetic profiling, together with more organized clinical services for rare diseases, has led to a rapid growth in the prevalence of FD. The earlier and more frequent diagnosis of asymptomatic individuals before development of the phenotype has focussed attention on early detection of organ involvement and closer monitoring of disease progression. The high cost of enzyme replacement therapy at a time of constraint within many health economies, moreover, has challenged clinicians to target treatment effectively. This article provides an outline of FD for the general physician and summarizes the aetiology and pathology of FD, the cardiovascular consequences thereof, modalities used in diagnosis and then discusses current indications for treatment, including pharmacotherapy and device implantation.