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Living with Gaucher disease

Information, shared experiences and research connections for people living with Gaucher disease and those who support them.

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Understanding Gaucher disease

Gaucher disease is an inherited condition that can affect many parts of the body, including the liver, spleen, blood and bones.

It is caused by changes in the GBA gene, and its types differ a lot: type 1, the most common, usually does not affect the brain, while types 2 and 3 affect the nervous system.

Signs & symptoms

Signs vary widely from person to person and depend a lot on the type.

  • Enlarged liver and spleen
  • Tiredness from low red blood cells (anemia)
  • Easy bruising from low platelets
  • Bone pain or fractures
  • Joint problems
  • Seizures or problems with movement and eye movements (types 2 and 3)

Tell your care team about new or changing symptoms.

Diagnosis

  1. Exam and history

    Doctors review your symptoms and family health history.

  2. Enzyme test

    A lab test can measure the activity of the enzyme that is low in Gaucher disease.

  3. Genetic testing

    Testing the GBA gene can help confirm the diagnosis, and a geneticist or genetic counselor can explain the results.

Care & treatment

Treatment
Enzyme replacement therapy is available for most people with types 1 and 3, and substrate reduction therapy is another option for some.
Supportive care
Some people may also need treatments such as blood transfusions for anemia or joint replacement surgery.
Your type
There is no effective treatment yet for severe brain involvement in types 2 and 3, so ask your team what care fits your type.

Discuss benefits, risks and follow-up with your care team.

Everyday life

Knowing your type and history helps your team plan care.

  • Write down your Gaucher disease type and any gene test results.
  • Keep a record of bone pain, fractures, bruising or tiredness.
  • Bring past blood counts and scan results so changes can be compared.
Bring these questions to your next doctor visit
Which type of Gaucher disease do I have, and what does that mean for me?
Is enzyme replacement or another treatment right for me?
How often should my blood, bones and organs be checked?
Sources: NIH GARD — Gaucher disease · NINDS — Gaucher disease · NINDS — Lipid storage diseasesPage drafted from NIH sources · Know Rare editorial review pending. General information to support conversations with your care team.

You are more than your diagnosis

Perspectives from people navigating life with Gaucher disease.

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Explore research for Gaucher disease

Explore actively recruiting Gaucher disease studies with HealthSpark.

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Find actively recruiting studies for Gaucher disease with HealthSpark. Share your city to explore research near you.

  • Phase 3 studies first, with nearest research center
  • Study information from ClinicalTrials.gov
  • Eligibility is confirmed by the study team

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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