Gaucher's disease

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Risk factors

By Mayo Clinic staff

The risk of having type 1 Gaucher's disease or being a carrier is higher if you're of Eastern or Central European Jewish (Ashkenazi) ancestry. Types 2 and 3 can occur in any ethnic group, except for a certain form of type 3 that's more common in people of Swedish descent.

A family history of any type of Gaucher's disease increases the risk of being either a carrier of Gaucher's or of developing the disease.

Complications Causes
References
  1. Eng CM. Genetics; clinical manifestations; and diagnosis of Gaucher disease. http://www.uptodate.com/home/index.html. Accessed March 3, 2011.
  2. Lysososmal storage disorders. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/print/sec19/ch296/ch296f.html. Accessed March 6, 2011.
  3. Learning about Gaucher disease. National Human Genome Research Institute. http://www.genome.gov/25521505. Accessed March 6, 2011.
  4. NINDS Gaucher's disease information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm. Accessed March 6, 2011.
  5. Eng CM. Treatment of Gaucher disease. http://www.uptodate.com/home/index.html. Accessed March 3, 2011.
  6. Mistry PK, et al. A reappraisal of Gaucher disease — diagnosis and disease management algorithms. American Journal of Hematology. http://wileyonlinelibrary.com/cgi-bin/jhome/35105. Accessed March 3, 2011.
  7. ACOG committee opinion: Preconception and prenatal carrier screening for genetic diseases in individuals of eastern European Jewish descent. Obstetrics & Gynecology. 2009;114:950.
  8. Piran S, et al. Gaucher disease: A systematic review and meta-analysis of bone complications and their response to treatment. Journal of Inherited Metabolic Disease. 2010;33:271.
  9. Gross SJ, et al. ACMG practice guidelines: Carrier screening in individuals of Ashkenazi Jewish descent. Genetics in Medicine. 2008;10:54.
DS00972 July 8, 2011

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