Fabry's disease natural history, complications and prognosis

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Fabry's disease Microchapters

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Overview

Historical Perspective

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Differentiating Fabry's disease from other Diseases

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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: Ghazal Sanadgol, M.D.[2]

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

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. Empty citation (help)Empty citation (help)[2]

Complications

Prognosis

  • The prognosis of Fabry's disease improves with treatment. Without treatment, Fabry's disease will result in reduced life expectancy.[4]

References

  1. Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290671.
  2. Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290671.
  3. Mehta A, Beck M, Sunder-Plassmann G (2006). "Fabry Disease: Perspectives from 5 Years of FOS". PMID 21290671.
  4. Jamboti J, Forrest CH (2017). "Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed". J Nephropathol. 6 (3): 130–133. doi:10.15171/jnp.2017.22. PMC 5607972. PMID 28975091.