Gaucher+Specifics

Causes, incidence, and risk factors
Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Persons of Eastern and Central European (Ashkenazi) Jewish heritage are at highest risk for the disease. It is an autosomal recessive disease. This means that the mother and father must both pass one abnormal copy of the gene to the child in order for the child to develop the disease. A parent who silently carries an abnormal copy of the gene is called a carrier. The lack of the glucocerebrosidase enzyme causes harmful substances to build up in the liver, spleen, bones, and bone marrow. The substances prevent cells and organs from working properly.

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.