Table of Contents
- Overview
- Symptoms
- Treatment
- Prevention
- Images
Glucocerebrosidase deficiency; Glucosylceramidase deficiency
Symptoms
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
Signs and 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
Images
Gaucher cell, photomicrograph
Bone marrow aspiration
Hepatosplenomegaly
Gaucher cell, photomicrograph #2
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Gaucher disease Treatment
Review Date: 11/12/2010
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.
A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)
