Fabry disease is an inherited Lysosomal Storage Disorder (LSD) caused by deficient activity of the enzyme α-galactosidase A. Impaired degradation and subsequent accumulation of α-galactosidase A substrates in lysosomes causes multi-systemic, progressive and life-threatening disease.1,2 Secondary disease processes eventually lead to renal failure, cardiac failure or cerebrovascular complications.read more
Testing & Diagnosis
Diagnosis of Fabry disease is often delayed and patients usually visit several medical specialists before a correct diagnosis is made.1 Recent data suggests that the overall diagnostic delay for patients with Fabry disease is around 15 years.1 The initial screening assay can be done by the suspecting specialist.
Fabry Disease Cases
Renal, cardiac and neuropathic pain case studies describe the clinical history of patients from onset of symptoms through to patient diagnosis.
Enzyme replacement therapy (ERT) is currently the only specific treatment for Fabry disease. It is available in Australia to eligible patients with Fabry disease through the Life Saving Drugs Program (LSDP).
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Role of Cardiac MRI in Fabry Disease
Dr Rebecca Kozor is a cardiologist at Royal North Shore Hospital and a Senior Lecturer at the University of Sydney where she co-directs the USyd CMR Research Group.