Gaucher's Disease Evaluation
Evaluation of Gaucher's disease begins with a complete history and physical examination.
Infants and children affected with this disease may have strabismus (crossed-eyes), cognitive impairment (dementia), abnormal eye movements, and evidence for peripheral neuropathy.
In adults, Gaucher's disease usually causes enlargement of the liver and spleen. Skeletal abnormalities and anemia are often present.
The evaluation can detect the specific type of Gaucher's disease.
Tests for Gaucher's disease may include:
- Coagulation profile
- Complete blood count
- Bone marrow aspiration and biopsy
- Chest x-ray
- Spleen biopsy
- Cell cultures for the detection of the enzyme beta-glucosidase
Brain imaging studies for Gaucher's disease may include:
Continue to Gaucher's Disease Treatment
- Brady RO. Gaucher's disease: past, present and future. Baillieres Clin Haematol. 1997 Dec;10(4):621-34. 
- Germain DP. Gaucher's disease: a paradigm for interventional genetics. Clin Genet. 2004 Feb;65(2):77-86. 
- Niederau C, Haussinger D. Gaucher's disease: a review for the internist and hepatologist. Hepatogastroenterology. 2000 Jul-Aug;47(34):984-97.