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Managing Gaucher disease

Personal support for Gaucher disease.

What is Gaucher disease?

Gaucher disease is a lipid storage disease. This means fatty substances (called Gaucher cells) build up and negatively affect your liver, spleen and bones. A doctor might diagnose you with Gaucher disease if you have anemia or low levels of platelets, or if you have an enlarged liver or spleen. Physical exams and blood tests identify the disease. One out of 40,000 people is diagnosed with Gaucher disease. It is an inherited (hereditary) condition.

For most people, treatment can help remove the buildup of fatty substances. But there is no known cure.

Treatment for Gaucher disease

There are three types of Gaucher disease:

  • Type 1 is the most common in western countries like the United States and Europe. It is treatable. The treatment – enzyme replacement therapy (ERT) – improves symptoms in the liver, spleen, bones and blood. Symptoms can result in an enlarged belly and fatigue.
  • Type 2 is much less common and causes damage to the brain stem. It usually affects babies. There is no treatment for type 2. It is usually fatal by age two.
  • Type 3 is the most common outside western countries. Patients usually have shortened lifespans, but with treatment, may live into their 50s.

Support from a HealthPartners nurse

If you or a loved one are living with a condition, we can help you learn how to:

  • Manage your symptoms
  • Prevent complications

Eligible members can receive free telephone help from nurses at HealthPartners. These calls are voluntary and confidential.

Or call us at 952-883-5469 or 800-871-9243. We’re here Monday through Friday from 8 a.m. to 5 p.m.

Helpful resources

HealthPartners provides these links as a convenience and for informational purposes. We are not responsible for the content on these sites. Listing them here doesn’t constitute an endorsement. If you have medical or health concerns, talk to your health care professional for advice.

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