Mayo Clinic Health Manager
Get free personalized health guidance for you and your family.
Get Started
About our e-newsletters
- Free e-newsletters
- Mayo Clinic expertise
- We do not share your e-mail address
Housecall, our weekly general-interest e-newsletter, keeps you up to date on a wide variety of health topics with timely, reliable, practical information, recipes, blogs, questions and answers with Mayo Clinic experts and more. Our biweekly topic-specific e-newsletters also include blogs, questions and answers with Mayo Clinic experts, and other useful information that will help you manage your health.
Housecall Archives
Mayo Clinic Housecall
Stay up to date on the latest health information.
What you get
- Free weekly e-newsletter
- Mayo Clinic expertise
- Recipes, tools and other helpful information
- We do not share your e-mail address
Symptoms
By Mayo Clinic staffSigns and symptoms of Gaucher's disease can vary widely from one person to another, particularly among different types of the disease.
The major types of Gaucher's disease and associated symptoms are:
Type 1. This form of the disease is the most common and is generally the most mild. Type 1 accounts for about 90 percent of cases. In this form of the disease, there's usually no damage to the brain. This type can occur at any age, although it's most prevalent in adults, with an average age of 30 at the time of diagnosis. Possible signs and symptoms of type 1 Gaucher's disease include:
- Skeletal abnormalities, including thinning of your bones (osteopenia), bone pain and bone fractures
- Enlarged liver (hepatomegaly) or spleen (splenomegaly), or both
- A decrease in healthy red blood cells (anemia)
- Excessive fatigue
- A greater susceptibility to bruising, which may mean you have a low number of blood platelets (thrombocytopenia)
- Yellow spots in your eyes (pingueculae)
- Delayed puberty
- Nosebleeds
Type 2. This form of Gaucher's disease is rare and much more severe than the other types. It begins during the first year of life, often developing by 3 months. These babies have brain damage that is extensive and progresses rapidly. In addition to the signs and symptoms listed above, other possible problems that may occur with this type of Gaucher's include:
- Cognitive deterioration, including mental retardation or dementia
- Rigidity
- Seizures
Type 3. This form of Gaucher's disease, also rare, usually begins in childhood or adolescence. It tends to be chronic and progresses more slowly than does type 2. Although the brain is affected, brain involvement tends to be milder than in type 2. Signs and symptoms, such as enlargement of the liver and spleen, tend to vary more in intensity than in type 2. Signs and symptoms that may occur more in type 3 than in type 1 include:
- Cognitive deterioration, including mental retardation or dementia
- Abnormal eye movements
- Loss of muscle coordination
When to see a doctor
If you have any of the signs and symptoms associated with Gaucher's disease, make an appointment with your doctor for an evaluation.
- Eng CM. Genetics; clinical manifestations; and diagnosis of Gaucher disease. http://www.uptodate.com/home/index.html. Accessed May 22, 2009.
- 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.
- Learning about Gaucher disease. National Human Genome Research Institute. http://www.genome.gov/25521505. Accessed May 27, 2009.
- 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.
- 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.
- 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.
- Anderson HC, et al. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genetics in Medicine. 2005;7:105.
- Zavesca (prescribing information). San Francisco, Calif.: Actelion Pharmaceuticals Inc.; 2008. http://www.zavesca.com/pdfs/zavesca_pi.pdf. Accessed May 26, 2009.
