Gaucher disease is a rare, inherited disorder that can affect the liver, spleen and bones. Symptoms can start to appear at any age. And they can differ depending on when they begin.
Treatments are available for several types of Gaucher disease. With a Gaucher disease diagnosis, you and your care team can develop a plan together to control and treat your symptoms. And with the right support, you can improve your quality of life and do more of what you enjoy.
Gaucher disease basics
Usually, your body produces an enzyme to help break down fatty substances. But with Gaucher disease, this enzyme doesn’t work properly. That results in a buildup of fat in your organs and bone tissue.
Fatty buildup in the organs (usually the liver and spleen) can cause them to enlarge and become less efficient. And fatty buildup in bone tissue can weaken bones, make them more fragile and interfere with the blood’s ability to clot.
Gaucher disease is an inherited condition. There are three types:
- Type 1 – This is the most common type in Western countries, affecting 95% of people diagnosed with Gaucher disease in the U.S. Type 1 can affect the bones, blood, liver and spleen. Symptoms can appear at any age, and they’re usually mild but may be severe. With treatment, most people with this type live normal and active lives.
- Type 2 – This very rare form of the disease appears in babies younger than six months. It causes very severe symptoms.
- Type 3 – This is the most common type worldwide, but it’s rare in the U.S. It usually appears before age 10 and can cause bone and organ issues.
Get personalized support services for Gaucher disease
Get customized resources, guidance and support from a nurse experienced with Gaucher disease – confidentially and at no extra cost. We’ll work with you and your care team to create a plan that helps treat your symptoms and empowers you with the assistance you need.
Additional information and resources
Find out more about Gaucher disease causes, symptoms, types, treatment options and more: