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Gaucher's Disease

What Is Gaucher's Disease?

Gaucher's disease causes problems with the way your body gets rid of a certain kind of fat.

With all types of the disease, an enzyme needed to break down this fat in your body doesn't work right. The fat builds up, especially in your liver, spleen, and bone marrow, causing problems.

There are three main types of Gaucher's disease. Type 1 is the most common. If you have type 1, your symptoms may be mild, moderate, or severe. Some people with type 1 have no symptoms at all. There are several treatments for type 1.

Type 2 and type 3 are more serious. Type 2 affects the brain and spinal cord. Babies with type 2 usually don't live past age 2. Type 3 also causes damage to the brain and spinal cord, but symptoms usually show up later in childhood.

There are treatments for Gaucher's disease. Still, living with any chronic illness is stressful. That's especially true if you are the parent of a child with Gaucher's. Getting help and support are key to giving your child the best quality of life while facing the challenges and stress this illness brings. 

Gaucher's disease can have many symptoms, including a swollen belly, bruising, and bleeding. Your blood may not clot well, or you may get anemia. It can also cause bone mineral loss that leads to bone pain and easily broken bones.

It’s passed along in families -- about 1 in 450 people of Ashkenazi Jewish descent (from Eastern and Central Europe) have the condition. It's the most common genetic disease that affects Jewish people.

Causes

Gaucher's disease is inherited. It's caused by a problem with the GBA gene.

You get the disease when both of your parents pass along a damaged GBA gene to you. You can pass a faulty gene on to your children, even if you don't have Gaucher's disease.

Symptoms

Your symptoms depend on what type you have.

Type 1. This is the most common form. It usually doesn't affect the brain or spinal cord. Symptoms of type 1 may appear at any time in your life, but they usually show up by the teen years. Sometimes the disease is mild and you won't notice any symptoms. The symptoms include:

  • Easy bruising
  • Nosebleeds
  • Fatigue
  • Enlarged spleen or liver, which makes your belly look swollen
  • Bone problems like pain, breaks, or arthritis

Type 2. It affects the brain and spinal cord and is very serious. Babies with this form usually don't live past age 2. The symptoms include:

  • Slow back-and-forth eye movement
  • Not gaining weight or growing as expected, called “failure to thrive”
  • High-pitched sound when breathing
  • Seizures
  • Brain damage, especially to the brain stem
  • Enlarged liver or spleen

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