ComplicationsBy Mayo Clinic staff
All types of Gaucher's disease tend to be progressive. Possible complications depend on the type of Gaucher's disease.
Complications of all types
Possible complications of all types of Gaucher's disease include:
- Bone pain, which can become severe and may be associated with fractures.
- A tendency to bleed, which may result in repeated hemorrhaging in the nostrils or nasal cavities, or bruising in 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:
- Difficulty walking
- 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.
- Eng CM. Genetics; clinical manifestations; and diagnosis of Gaucher disease. http://www.uptodate.com/home/index.html. Accessed March 3, 2011.
- 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.
- Learning about Gaucher disease. National Human Genome Research Institute. http://www.genome.gov/25521505. Accessed March 6, 2011.
- 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.
- Eng CM. Treatment of Gaucher disease. http://www.uptodate.com/home/index.html. Accessed March 3, 2011.
- 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.
- ACOG committee opinion: Preconception and prenatal carrier screening for genetic diseases in individuals of eastern European Jewish descent. Obstetrics & Gynecology. 2009;114:950.
- 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.
- Gross SJ, et al. ACMG practice guidelines: Carrier screening in individuals of Ashkenazi Jewish descent. Genetics in Medicine. 2008;10:54.