Signs and Tests

• large spleen (splenomegaly)
• large liver (hepatomegaly)
• low blood count (anemia)
• low platelet count (thrombocytopenia)
• crossed eyes (strabismus)
• seizures
• abnormal gait (ataxia)  

Evaluation:

• 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:

Genetic testing is performed by obtaining bone marrow or blood. Tests are designed to assess enzyme functional activity and/or obtain and sequence DNA to look for certain mutations.

Genetic testing is an extremely complicated personal decision that should be considered for a variety of reasons including, to advise siblings or other relatives in families of diagnosed patients, or to confirm a diagnosis in a patient with symptoms.

Testing can also determine if parents carry the gene that could pass Gaucher's disease. By virtue of Gaucher's disease being a recessive disease, offspring of two parental carriers have a 25% chance of inheriting two abnormal copies of the gene.

Testing is complicated by the fact that the disease expression is extremely variable, and patients that test positive may not show signs and symptoms of the disease.

Therefore, routine testing is not recommended and may be disadvantageous, as this information may have to be revealed to insurance companies. A prenatal test can also tell if the fetus has Gaucher syndrome.

In every circumstance, genetic counseling should be available to anyone considering genetic testing for this disease.

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