Gaucher disease : Symptoms, Diagnosis & Tests (Glucocerebrosidase deficiency, Glucosylceramidase deficiency)

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You are here : AllRefer.com > Health > Diseases & Conditions > Gaucher disease : Symptoms, Diagnosis & Tests

Gaucher disease

Alternate Names : Glucocerebrosidase deficiency, Glucosylceramidase deficiency

Symptoms & Signs

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

Diagnosis & 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

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Gaucher disease : Definition
Gaucher disease : Overview, Causes, & Risk Factors
Gaucher disease : Symptoms & Signs
Gaucher disease : Diagnosis & Tests
Gaucher disease : Treatment
Gaucher disease : Support Groups
Gaucher disease : Prognosis (Expectations)
Gaucher disease : Complications
Gaucher disease : Prevention
Gaucher disease : References
Gaucher disease : Pictures & Images
Bone marrow aspiration
Gaucher cell, photomicrograph
Gaucher cell, photomicrograph #2
Hepatosplenomegaly

Review Date : 3/14/2009
Reviewed By : Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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