Gaucher disease type 2
Overview
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. In people with this condition, the body is unable to break down a certain type of fat (lipid) called glucocerebroside. Type 2 Gaucher disease is characterised by onset in infancy and severe involvement of the central nervous system (the brain and spinal cord).
Symptoms
* Fatigue * Easy bruising * Enlarged abdomen * Enlarged liver and spleen * Cranial nerve palsy
Causes
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. In people with this condition, the body is unable to break down a certain type of fat (lipid) called glucocerebroside. Type 2 Gaucher disease is characterised by onset in infancy and severe involvement of the central nervous system (the brain and spinal cord).
Diagnosis
A blood test is performed to confirm a diagnosis of Gaucher Disease Type II. This blood test measures the amount of the enzyme glucocerebrosidase and compares it to normal enzyme activity levels. If the disorder is present, low levels of enzyme will be present as well.
Treatment
Treatment for Gaucher Disease Type II includes pain management. Various therapies can reduce the pain associated with this disorder. Blood transfusions can help treat the anemia that may occur in some affected individuals. Psychological counseling is encouraged to help families manage some of the emotional toll this disorder imparts. Enzyme replacement therapy does not prevent the nervous system damage that occurs in Gaucher Disease Type II.