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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.

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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.

Case Studies

Fabry Disease Cases

Renal, cardiac and neuropathic pain case studies describe the clinical history of patients from onset of symptoms through to patient diagnosis.

Treatment

Treating Fabry

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).

Resources

Resources

All of your resources and patient information booklets can be accessed here for you to download or order.

References

  1. 1.Germain DP. (2010) Fabry disease. Orphanet J Rare Dis 5: 30.
  2. 2.Zarate YA, Hopkin RJ. (2008) Fabry's disease. Lancet 372(9647): 1427-1435.
  3. 3.El-Abassi R, Singhal D, England JD. (2014) Fabry's disease. J Neurol Sci 344(1-2): 5-19.
  1. 4.Nakao S, Takenaka T, Maeda M, et al. (1995) An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 333(5): 288-293.
  2. 5.Nakao S, Kodama C, Takenaka T, et al. (2003) Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int 64(3): 801-807.