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Red flags on Anderson Fabry disease

Dr Deirdre Ward, Dr Mark Canney and Dr Michael Clarkson examine how best to identify, diagnose and manage the rare condition of Fabry disease. Anderson Fabry disease, more commonly known as Fabry disease (or AFD), is a relatively rare X-linked lysosomal storage disorder. It is a multi-system disorder that often goes unrecognised, with many patients presenting with symptoms up to 16 years before a correct diagnosis is made (Mehta, A, et al, 2004). As a specific treatment, enzyme replacement therapy is available for this condition, and as the treatment success is at least in part determined by the extent of…