Gaucher's disease

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Complications

By Mayo Clinic staff

Complications of all types
Possible complications of all types of Gaucher's disease include:

  • Bone pain, which can become severe and incapacitating and may be associated with fractures.
  • A tendency to bleed, which may result in repeated hemorrhaging in the nostrils or nasal cavities, or bruising beneath the skin (ecchymosis).
  • An increased risk of certain cancers. Older people with Gaucher's disease may have an increased likelihood of developing certain types of cancer, particularly multiple myeloma — uncontrolled multiplication of plasma cells.

Complications of type 2
Complications that are more likely to occur in people with type 2 Gaucher's disease often include serious neurological complications, such as:

  • Seizures
  • Abnormal gait
  • Swallowing problems

As these problems progress and become more severe, they can become debilitating and lead to death.

Complications of type 3
People with type 3 Gaucher's disease are more likely to develop calcification of heart valves, which damages the valves and makes it increasingly difficult for them to open fully and function properly.

References
  1. Eng CM. Genetics; clinical manifestations; and diagnosis of Gaucher disease. http://www.uptodate.com/home/index.html. Accessed May 22, 2009.
  2. Lysososmal storage disorders. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/print/sec19/ch296/ch296f.html. Accessed May 26, 2009.
  3. Learning about Gaucher disease. National Human Genome Research Institute. http://www.genome.gov/25521505. Accessed May 27, 2009.
  4. NINDS Gaucher's disease information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm. Accessed May 27, 2009.
  5. Hopkin RJ, et al. Lysosomal storage diseases. In: Fauci AS, et al. Harrison's Principles of Internal Medicine. 17th ed. New York, N.Y.: McGraw-Hill Medical; 2008. http://www.accessmedicine.com/content.aspx?aID=2903685. Accessed May 27, 2009.
  6. Beutler E. Lipid storage diseases. In: Lichtman MA, et al. Williams Hematology. 7th ed. New York, N.Y.: McGraw-Hill Medical; 2006. http://www.accessmedicine.com/content.aspx?aID=2146463. Accessed May 27, 2009.
  7. Anderson HC, et al. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genetics in Medicine. 2005;7:105.
  8. Zavesca (prescribing information). San Francisco, Calif.: Actelion Pharmaceuticals Inc.; 2008. http://www.zavesca.com/pdfs/zavesca_pi.pdf. Accessed May 26, 2009.

DS00972

July 11, 2009

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