What is Gaucher disease?

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.

Who gets Gaucher disease?

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.

What are the types of Gaucher disease?

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.

What causes Gaucher disease?

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.

What are the symptoms of Gaucher disease?

The following are some symptoms of Gaucher disease:

  • Lack of energy
  • Liver problems
  • An enlarged liver
  • An enlarged spleen
  • Problems with bones, including lack of bone density
  • Pain in the bones
  • Problems with bruising and blood clotting
  • Anemia (not enough red blood cells)
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