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Gaucher disease

  • Alternative Names

    Glucocerebrosidase deficiency; Glucosylceramidase deficiency


    Symptoms vary depending on the type of disease, but may include:

    • Bone pain and fractures
    • Cognitive impairment
    • Easy bruising
    • Enlarged spleen (splenomegaly)
    • Enlarged liver (hepatomegaly)
    • Fatigue
    • Heart valve problems
    • Lung disease
    • Seizures
    • Severe swelling (edema) at birth
    • Skin changes

    Signs and tests

    The doctor will perform a physical exam. The patient may have signs of liver and spleen swelling, bone changes, lung disease, eye movement problems, heart problems, or hearing loss.

    The following tests may be performed:

    • Blood test to look for enzyme activity
    • Bone marrow aspiration
    • Biopsy of the spleen
    • MRI
    • CT
    • X-ray of the skeleton
    • Genetic testing