Gaucher disease

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Bone marrow aspiration

Gaucher cell, photomicrograph

Gaucher cell, photomicrograph #2

Hepatosplenomegaly

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

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

Review Date: 02/14/2007
Reviewed By: Leisha M. Andersen, M.D., Private Practice specializing in Pediatrics, Denver, CO. Review provided by VeriMed Healthcare Network.