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Gauchers Disease is a rare, inherited disorder that causes too much of a substance called glucocerebroside to build up in your spleen, liver, lungs, bones and sometimes in your brain. The buildup prevents these organs from working properly.
There are three major types of Gauchers disease. Classification depends on age at the time of diagnosis, and whether the brain and central nervous system are involved:
Type 1 In this form of the disease, there's no brain involvement. It causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. It can occur at any age, although it's most prevalent in adults, with an average age of 20 years old at the time of diagnosis. It's by far the most common type of Gaucher's disease.
Type 2 This form of Gaucher's disease is rare and occurs in infants with severe signs and symptoms, such as liver and spleen enlargement, developing by 3 months of age. These babies have brain damage that is extensive and progresses rapidly. Most children who have it die by age 2.
Type 3 This form of Gaucher's disease, also rare, occurs in children and adolescents. It tends to be chronic and progresses more slowly than does type 2. Although the brain is affected, brain involvement tends to be relatively mild. Signs and symptoms, such as enlargement of the liver and spleen, vary in intensity.
Gauchers disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of type 2.
Signs and symptoms of Gauchers disease can vary widely from one person to another. Bone pain or a bone fracture is often the first symptom. The symptoms may include:
Skeletal abnormalities, including thinning of your bones, bone pain and bone fractures
Enlarged liver or spleen, or both
Anemia, due to fewer healthy red blood cells
A greater susceptibility to bruising, which may mean you have a low blood platelet level
Cognitive deterioration, including mental retardation or dementia
Yellow spots in your eyes
Abnormal eye movements
Impaired function of your lungs and kidneys
Brownish coloring of your skin
The cause is a deficit of the enzyme glucocerebrosidase. This enzyme normally breaks down fatty substances called glucocerebrosides. When the enzyme is scarce, however, the fatty substances can build up in your brain and other organs, and also within your bone marrow.
Gaucher's disease is passed along in an inheritance pattern called autosomal recessive. Both parents need to be carriers of the Gaucher's genetic mutation in order for their child to develop the condition. But even when both parents are carriers, there's still only a 25 percent chance that the child will develop the disease, compared with a 50 percent chance of their child being an unaffected carrier, and a 25 percent chance of him or her not being a carrier and not having the disease.
Enzyme replacement therapy This approach replaces the deficient enzyme with synthetic enzymes. These replacement enzymes are administered in an outpatient procedure through a vein (intravenously), typically at two-week intervals at high doses.
Although effectiveness can vary, it's frequently effective in people with type 1 Gauchers disease and, in some cases, type 3. In many people, enzyme replacement therapy can reduce the enlargement of the liver and spleen, and help to resolve blood abnormalities. Children treated with enzyme therapy often experience a growth spurt and weight gain as skeletal abnormalities are moderated.
This treatment is most effective when started prior to development of significant organ enlargement or bone impairment. It's unclear whether this therapy is effective for the neurological problems of Gaucher's disease. Occasionally, people experience an allergic or hypersensitivity reaction to enzyme treatment, triggering a rash, nausea, diarrhea or abdominal pain.
Bone marrow transplantation This surgical procedure has been used for severe cases. In this technique, blood-forming cells that have been damaged by Gaucher's are removed and replaced, which can reverse many of Gaucher's signs and symptoms. Because this approach is high-risk, it's performed much less often than is enzyme replacement therapy.
The medication miglustat (Zavesca). The effectiveness of this oral medication in people with Gaucher's disease is still being studied, but it may be capable of interfering with the production of glucocerebrosides in some people with type 1 disease. Diarrhea and weight loss are common side effects.
People with mild cases of Gaucher's disease, particularly those who develop it in adulthood, have normal life expectancies. Children whose illness begins during infancy generally don't live beyond the age of 2 years old.