Gaucher+Disease

General Info: Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase.

There are three main subtypes of Gaucher disease:
 * Type 1 disease is most common. It involves bone disease, anemia, an enlarged spleen and thrombocytopenia. Type I affects both children and adults. It is most common in the Ashkenazi Jewish population.
 * Type 2 disease usually begins in infancy with severe neurologic involvement. This form can lead to rapid, early death.
 * Type 3 disease may cause liver, spleen, and brain problems. Patients may live into adulthood.

Symptoms
Symptoms vary depending on the type of disease, but may include:
 * Bone pain and fractures
 * Cognitive impairment
 * Easy bruising
 * Enlarged spleen
 * Enlarged liver
 * 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

a few years later.....

For more specific disease information CLICK HERE.

Gaucher Disease can be screened for at birth through Newborn Screening Programs. To find Info on Newborn Screening CLICK HERE.

Bibliography: [] copyright 2011