Fabry's disease natural history, complications and prognosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:

Overview

If Fabry's disease leaves untreated it can lead to end-stage renal disease (ESRD), cardiomyopathy, and stroke which are the main causes of death in these patients. Enzyme replacement therapy (ERT) treatment has an important role in their life expectancy and disease complications.

Natural History

Homozygotes

• The symptoms of classic Fabry's disease usually develop in childhood or adolescents , and start with symptoms such as neuropathic pains, angiokeratomas, dyshidrosis, GI symptoms, and etc.
• Without treatment, lifespan of homozygote men will dramatically reduced to fifth decade and the main causes of deaths are renal failure, heart disease or stroke.

Heterozygote

• The symptoms of late-onset Fabry's disease in females and atypical variants are accrue in higher ages and are less severe.
• With out treatment, life span of heterozygote females will be at seventh decade and the main causes of death are cardiac dysfunction, cancer and stroke.

Complications

• Common complications that can develop as a result of Fabry's disease are:
  • Heart problems including cardiomyopathy, Arrhythmia, Heart failure
  • Renal failure (ESRD)
  • Peripheral neuropathy
  • Strokes (such as TIA)
• Complications that can develop as a result of the treatment of Fabry's disease with enzyme replacement therapy are:
  • Infusion reactions: rigors, fever, etc.
  • Seroconversion: presents of anti-bodies may lower the efficacy of ERT.

Prognosis

• The prognosis of Fabry's disease improves with treatment. Without treatment, Fabry's disease will result in reduced life expectancy.