Gaucher's (go-SHAYZ) disease occurs when certain harmful fatty substances accumulate to excessive levels in your liver, spleen, lungs, bone marrow and, less commonly, brain. This accumulation of fatty material in tissues interferes with how your body works and may cause organ enlargement and bone pain.
Gaucher's disease is caused by a deficiency of the enzyme glucocerebrosidase, which helps the body process the fatty substance glucocerebroside. The disease is sometimes called glucocerebrosidase deficiency.
Gaucher's disease can occur at any age. It's most common in Jewish people of Eastern and Central European descent (Ashkenazi).
Treatment for Gaucher's disease may involve enzyme replacement and other therapies.
Symptoms
Signs and symptoms of Gaucher's disease can vary widely depending on the type of the disease and the person affected. Siblings, even identical twins, with the disease may have different levels of severity.
The major types of Gaucher's disease and associated symptoms are:
Type 1
This form of the disease is the most common and generally the mildest. 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 common in adults, with an average age of 30 at the time of diagnosis. Possible signs and symptoms of type 1 Gaucher's disease include:
This form of the disease is the most common and generally the mildest. 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 common 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 more severe than the other types. It begins during the first year of life, often developing by 3 months. Babies with type 2 Gaucher's disease have extensive brain damage that progresses rapidly. In addition to the signs and symptoms listed for type 1, other possible problems that may occur with type 2 include:
This form of Gaucher's disease is rare and more severe than the other types. It begins during the first year of life, often developing by 3 months. Babies with type 2 Gaucher's disease have extensive brain damage that progresses rapidly. In addition to the signs and symptoms listed for type 1, other possible problems that may occur with type 2 include:
- Brain problems, 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:
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:
- Brain problems, including mental retardation or dementia
- Abnormal eye movements
- Loss of muscle coordination
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