Gaucher disease is an inherited (genetic) condition that causes a buildup of fatty substances in organs including the liver, lungs, brain, and spleen. The fatty substance enlarges the organs, causing them to not work as they should. Also, the fatty substance can build up in bones, making them weaker. If the bone marrow is affected by Gaucher disease, the blood might not be able to clot properly.
Gaucher disease is most often found in people of Eastern or Central European Jewish (Ashkenazi) descent. The disease is found in 1 out of every 850 births within this population. However, Gaucher disease can also be found in other ethnicities, although it is less common.
There are 3 types of Gaucher disease. The most common one is type 1. This form of Gaucher disease does not affect the brain. People with type 1 have enlarged livers and spleens as well as problems with their bones. These people have a lack of energy and feel tired because of anemia. There is a lot of bruising with type 1 Gaucher disease because the blood does not have enough platelets. Symptoms can appear at any age.
Type 2 Gaucher disease usually results in death by the age of 2. Babies with this type have enlarged spleens and livers. This type is often diagnosed by the time a baby is 3 months old.
Type 3 Gaucher disease has various degrees of spleen and liver enlargement. People with this type may have seizures and other problems with their brains. Problems with the bones, eyes (movement disorders), breathing, and blood also may be present.
Gaucher disease results when there is not enough of a certain enzyme (protein that speeds up chemical reactions) in the body. This enzyme breaks down the fatty materials that affect the organs.
The following are some symptoms of Gaucher disease:
Most people who have types 1 and 3 Gaucher disease can get enzyme replacement therapy. This therapy is given through a vein and can shrink the size of the liver and spleen. Enzyme therapy also can ease problems with the bones, eyes, breathing, and blood. In people who have anemia, blood transfusions can help. Bone marrow transplants can be done, but only in rare cases and is never necessary in type 1 Gaucher disease. Surgery to remove the spleen also can be done in rare cases. The brain damage in people with types 2 and 3 Gaucher disease cannot be treated.Recently, a new treatment has become available for people with type 1 Gaucher disease which is called substrate reduction therapy. This treatment is given orally in the form of pills and many patients with type1 Gaucher disease are eligible for this treatment. This therapy is not available for people with type 2 and 3 Gaucher disease.
The outlook for people with type 1 Gaucher disease can be very different from person to person. Many people who have type 1 Gaucher disease do not have any symptoms and are able to lead normal lives. Others with type 1 Gaucher disease have symptoms that are life-threatening. Overall, Gaucher disease type 1 is well treatable in most cases with the currently available medications. People with type 1 and type 3 Gaucher disease can live well into adulthood.
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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or healthcare provider. Please consult your healthcare provider for advice about a specific medical condition. This document was last reviewed on: 11/22/2016