Fabry Disease

  • Medical Author:
    John P. Cunha, DO, FACOEP

    John P. Cunha, DO, is a U.S. board-certified Emergency Medicine Physician. Dr. Cunha's educational background includes a BS in Biology from Rutgers, the State University of New Jersey, and a DO from the Kansas City University of Medicine and Biosciences in Kansas City, MO. He completed residency training in Emergency Medicine at Newark Beth Israel Medical Center in Newark, New Jersey.

  • Medical Editor: William C. Shiel Jr., MD, FACP, FACR
    William C. Shiel Jr., MD, FACP, FACR

    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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What is the life expectancy for a person with Fabry disease?

The life expectancy of males with Fabry disease is about 58 years, and the life expectancy of females with Fabry disease is just over 75 years. The most common cause of death in both genders is cardiovascular disease.

What other names are Fabry disease called?

Fabry disease is referred to by many other names, including:

  • alpha-galactosidase A deficiency
  • Anderson-Fabry disease
  • angiokeratoma corporis diffusum
  • angiokeratoma diffuse
  • ceramide trihexosidase deficiency
  • Fabry's disease
  • GLA deficiency
  • hereditary dystopic lipidosis

REFERENCES:

Desnick, MD, PhD. et al. "Genetics of Fabry Disease Treatment & Management." Medscape. Updated FEb 24, 2016.
<http://emedicine.medscape.com/article/951451-treatment>

Fabry Support & Information Group (FSIG). "What is Fabry Disease."
<http://www.fabry.org/fsig.nsf/pages/fabry>

National Organization for Rare Disorders. (2015). "Fabry Disease."
<http://rarediseases.org/rare-diseases/fabry-disease/>

U.S. National Library of Medicine Genetics Home Reference. (2016, June 21). "Fabry disease." Updated Jun 28, 2016.
<https://ghr.nlm.nih.gov/condition/fabry-disease>

Waldek, S. P., et al. "Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry." Genet Med. 2009 Nov;11(11):790-6. doi: 10.1097/GIM.0b013e3181bb05bb
<http://www.ncbi.nlm.nih.gov/pubmed/19745746>

Medically Reviewed by a Doctor on 6/30/2016

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