Gaucher Disease

Gaucher disease is a rare disease. It causes the abnormal storage of fatty substances. These fatty substances build up in the bones, liver, lungs, spleen and occasionally the brain. There are three types of Gaucher disease:

  • Causes

    Gaucher disease is a genetic disease. A faulty gene limits the amount of an enzyme called glucocerebrosidase. The enzyme normally breaks down a fat called glucocerebroside. There is not enough of the enzyme to break down all of this specific fat. As a result, it builds up in the spleen, liver, lungs, bones, and brain.

  • Definition

    Gaucher disease is a rare disease.
    It causes the abnormal storage of fatty substances. These fatty substances build up in the bones, liver, lungs, spleen and occasionally the brain. There are three types of Gaucher disease:

    • Type I—most common, found widely in people of Ashkenazi Jewish descent
    • Type II—rare, rapidly progressive form
    • Type III—rare, most cases found in Japan and Scandinavia

  • Diagnosis

    Your doctor will ask about symptoms and medical history. A physical exam will be done.

    Your bodily fluids and tissue may be tested. This can be done with:

    • Blood tests
    • Tissue biopsy
    • Urine tests

  • Prevention

    There is no known way to prevent Gaucher disease. If you have Gaucher disease or have a family history of the disorder, you can talk to a genetic counselor. They can help determine the risk of Gaucher disease in your offspring.

  • Risk Factors

    A family history of Gaucher is the only known factor that increases your risk of Gaucher.

  • Symptoms

    Symptoms vary across the three types of Gaucher disease. In general, the later the onset of symptoms, the less likely that symptoms will be severe.


    Type I symptoms may include:

    • Fatigue
    • Easy bruising
    • Slow or stunted growth in children
    • Intestinal problems like abdominal swelling
    • Trouble breathing
    • Seizures
    • Vision problems
    • Developmental delays
    Spleen
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    Types II and III also have additional symptoms.

    In type II, rigidity and seizures may appear within the first few months of life. Dementia and intellectual disabilities may appear later. This type is usually fatal by the age of three.

    In type III, the primary symptom is a slowly progressive neurologic disease. This can include seizures and mental retardation. Other symptoms are similar to type I and may appear in early childhood. People with type III Gaucher who survive through adolescence may survive until their 30s or 40s.

  • Treatment

    There is no treatment for the severe neurologic symptoms that may occur with type II and type III Gaucher.

    Treatment options for type I Gaucher include: