Gaucher's Disease

By Chase Treadway

What is Gaucher's?

This is a genetic disorder that causes the body to accumulate fatty substances in certain organs and in cells. The build up is particularly found in the liver and spleen. These fatty substances can build up so much in blood tissue that it weakens bones and puts them at a high fracture risk.

Symptoms

The symptoms of this disease vary and can show up at any time. There are 3 types: type 1, 2, and 3. Type 1, the most common, causes people to experience fatigue, bruising, bleeding, and anemia. Type 2 and 3 affect the brain and spinal cord.

Causes of Gaucher's

This metabolic disease is developed by someone missing an enzyme (glucocerebrosidase) that has the ability to break down fatty substances. This causes fats to build up around organs. This disease is a mutation.

Is it inherited?

This disease is in fact inherited. It is the most common among people of jewish decent, particularly the eastern and central areas of Europe. It is a autosomal recessive disorder. For a child to develop this disease, both the mother and the father must be a carrier of the trait. There is a 1 in 4 chance that a mother and father who are carriers of this disease will have a baby that is born with it. It is located on the first chromosome.

How it diagnosed?

It is mainly diagnosed through blood testing. An accurate diagnosis of this disease can take many months or years to find out because of how similar the symptoms can be to more common disorders. Gene testing is an effective way to see if you are a carrier that could potentially pass the disorder to your future children.

Treatment

There is no known cure for Gaucher's Disease. Type 1 and 3 of the disease can be treated by enzyme replacement therapy and medicine. Type 2, which is the most fatal form of the disease, has no known treatment. Type 2 occurs in infants that usually only live to be 3 to 4 years of age.

Other information

- This disease leads to a high risk of getting Parkinson's disease.

- 1 in 50,000 people end up having this disease.

- It was first discovered by Philippe Gaucher in 1882.

- Gaucher's is also known as a lipid storage disorder.

- 1% of Americans are carriers of type 1 Gaucher's disease.

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