Gaucher disease

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Bone marrow aspiration Gaucher cell, photomicrograph Gaucher cell, photomicrograph #2 Hepatosplenomegaly

Overview Symptoms Treatment Prevention

Gaucher disease

Glucocerebrosidase Deficiency; Glucosylceramidase Deficiency

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

• enlarged spleen (splenomegaly)
• enlarged liver (heptomegaly)
• lung disease
• skin changes
• cognitive impairment
• bone pain and fractures
• easy bruising
• fatigue
• seizures
• severe edema at birth
• heart valve problems

The following tests may be performed:

• blood cell examination for decreased enzyme activity
• white blood cell cultures for beta-glucosidase
• bone marrow aspiration
• biopsy of the spleen
• MRI, CT and/or X-ray of the skeleton
• Genetic testing. This is performed by obtaining bone marrow or blood.Genetic testing may be used to confirm blood tests, test for carrier status,to make a prenatal diagnosis, and to determine prognosis.

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