What is Gaucher Disease
Gaucher disease is a rare, inherited disease that causes fatty substances (lipids) to build up in the body. The lipids most often build up in the liver, lungs, bones, and spleen. In severe forms of Gaucher disease, lipids can build up in the brain.
Gaucher disease can range from mild to severe. There are three types of the disease:
- Type 1 is the most common. It mainly affects the bones, spleen, liver, and lungs, beginning in childhood.
- Type 2 is the most severe. It causes life-threatening changes in the brain, usually beginning by 3–6 months of age.
- Type 3 affects the same organs as type 1, but it also affects the brain. This type develops more slowly than type 2.
What are the causes?
Gaucher disease happens because your body does not have enough of a certain type of enzyme (glucocerebrosidase). An enzyme is a body protein that breaks down other body substances.
Gaucher disease is an inherited disease. This means it is caused by genes that are passed down through families. To get the disease, the genes must be passed to you by both your mother and your father.
What increases the risk?
This condition is more likely to occur in people who are of Ashkenazi (central or eastern European) Jewish ancestry.
What are the signs or symptoms?
Symptoms vary depending on the type and severity of the disease. Mild forms of the disease may cause very few symptoms. If you have symptoms of Gaucher disease, they may include:
- Being tired (fatigued) from a low blood cell count (anemia).
- Bone pain.
- Bruising.
- Bleeding, mainly nosebleeds.
- Brittle bones (osteoporosis).
- Swelling of the abdomen.
- Loss of mental skills.
- Being clumsy.
- Seizures.
People with severe type 2 often do not live long enough to have symptoms.
How is this diagnosed?
This condition is diagnosed based on your medical history, symptoms, and a physical exam. During the exam, your health care provider will check to see if your spleen or liver has become larger than normal (enlarged). You may also have tests, including:
- Blood
tests to check for:
- The abnormal genes that indicate Gaucher disease.
- A very low level of glucocerebrosidase.
- Anemia.
- How well your liver is working.
- Imaging tests to check for an enlarged spleen or liver.
- Bone X-rays.
How is this treated?
Treatment for type 1 or type 3 Gaucher disease will depend on the type of disease, the severity of the disease, and your age. In many cases, you can manage type 1 and type 3 Gaucher disease with medicines that break down lipids or keep them from building up. Your health care provider will help you choose a treatment that is right for you.
There is no treatment for type 2 Gaucher disease.
Follow these instructions at home:
Take over-the-counter and prescription medicines only as told by your health care provider.
- Rest as told by your health care provider.
- Ask your health care provider what type of exercise is safe for you. You may have limits on how much you can do if your spleen or liver is enlarged.
- Make sure you have a good support system at home.
- Keep all follow-up visits as told by your health care provider. This is important.
Contact a health care provider if:
- You have any problems with your medicines.
- You have a flare-up of your symptoms.
- You have new symptoms.
Get help right away if:
- You have bleeding that is very heavy or lasts longer than 20 minutes.
- You have very bad bone pain.
- You have a seizure.
- You have chest pain or trouble breathing.
