Gaucher Disease Type 1, 2 And 3

What is Gaucher disease?

Gaucher disease is a rare metabolic disorder. At Gaucher is there too much of a fatty substance (glucosyl ceramides) in the body. This substance is mainly in the spleen, liver, bone marrow and bones. These organs become damaged thereby.

There are three types of Gaucher. Type 1 is the most common. Type 2 and type 3 are very rare.

1. At Gaucher type 1 swell the liver and the spleen on. That allows for different complaints.
2. Type 2 begins within six months after birth. The spleen, liver and nervous system of the child hit seriously damaged. These children usually die before they are two years.
3. Type 3 is similar to type 2, but is slightly slower. Without treatment death people with this type between fifteen and thirty years.

The treatment is enzyme replacement therapy. People with Gaucher have this on average once a week. Against some types of Gaucher are also pills.

Gaucher disease is recessive hereditary. As Gaucher in your family, you can get prenatal examination.

What do you notice of Gaucher disease type 1?

At Gaucher type 1 swell the liver and the spleen on. people with Gaucher type 1 have the following complaints:

1. They have abdominal pain.
2. They are short of breath.
3. They quickly get bruises and wounds heal slowly.
4. Many people suffer from fatigue.
5. Many people have pain in bones and joints. Sometimes deform bones or break them spontaneously.
6. They have yellow spots on their skin and in their eyes.

The complaints usually start only when someone is mature.

People with Gaucher type 1 life just as long as healthy people. However, some people with Gaucher 1 eventually walking AIDS, such as crutches or a wheelchair.

How the doctor finds Gaucher disease?

To determine Gaucher have a blood test and urinalysis enough.

Because Gaucher disease is hereditary, the doctor will often do family research and genealogy. The doctor looks thereby or more people in your family have the disease. Maybe they offer family members to get tested for Gaucher disease.

Are you pregnant and Gaucher in your family? You can get prenatal testing. Such prenatal testing done by chorionic villus sampling or amniocentesis.

Treatment of Gaucher Disease

The treatment of Gaucher disease (type 1) is enzyme replacement therapy (ERT). You will receive an infusion glucocerebrosidase, the enzyme that is missing in Gaucher.
Some people have a few times a week required a drip, others once every two weeks. Most people give themselves at home infusion.

By infusions reduce symptoms. The shortness of breath and abdominal pain are reduced. Wounds and bruises heal much better. The ERT ensures that your bones are not damaged further. Bone abnormalities that are already usually not recover. By treating many people with Gaucher can resume their work and their old lives.

There are also pills against the symptoms of Gaucher disease. These work less well than ERT. They are therefore only suitable to a mild form of Gaucher disease. A doctor can prescribe the pills and infusions for you are not possible.