Gaucher Disease

Gaucher disease is a rare disease that causes fatty substances called lipids to build up in the body. The lipids most often build up in the liver, lungs, bones, and spleen. In severe forms of this disease, lipids can build up in the brain.

• 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?

This condition is caused by not having enough of a certain type of enzyme (glucocerebrosidase). An enzyme is a body protein that breaks down other body substances.

Gaucher disease is a genetic disorder. It is passed from parent to child (inherited). To get the disease, the genes must be passed to you by both your mother and your father.

What increases the risk?

You are more likely to develop this condition if you are of central or eastern European (Ashkenazi) Jewish descent.

What are the signs or symptoms?

• Being tired due to a low blood cell count (anemia).
• Bone pain.
• Bruising.
• Bleeding, mainly nosebleeds.
• Brittle bones (osteoporosis).
• Swelling of the abdomen.
• Neurological problems, such as loss of mental skills, being clumsy, or having seizures.

People with severe type 2 Gaucher disease often do not live long enough to have symptoms.

How is this diagnosed?

• 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:

Activity

• Rest as told by your health care provider.
• Ask your health care provider what activities are safe for you.
• 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 larger than normal.

General instructions

• Make sure you have a good support system or help at home.
• Take over-the-counter and prescription medicines only as told by your health care provider.
• Keep all follow-up visits. This is important.

Where to find more information

• National Gaucher Foundation: gaucherdisease.org

Contact a health care provider if you have:

• Any problems with your medicines.
• A flare-up of your symptoms.
• New symptoms.

Get help right away if you have:

• Bleeding that is very heavy or lasts longer than 20 minutes.
• Severe bone pain.
• A seizure.
• Chest pain or trouble breathing.

These symptoms may represent a serious problem that is an emergency. Do not wait to see if the symptoms will go away. Get medical help right away. Call your local emergency services (911 in the U.S.). Do not drive yourself to the hospital.

Summary

• Gaucher disease is a rare, inherited disease that causes fatty substances called lipids to build up in the body.
• Symptoms vary depending on the type and severity of the disease.
• This condition is diagnosed based on your medical history, symptoms, and a physical exam.
• Treatment for type 1 or type 3 Gaucher disease will depend on the type of disease, the severity of the disease, and your age.
• Get help right away if you have severe bleeding or bone pain, or if you have a seizure or chest pain.