Gaucher Disease is a rare genetic disorder that causes accumulation of the glucocerebroside in the cells and organs of the body. The disorder may cause symptoms like bruising, severe fatigue, low blood platelet count, liver and spleen enlargement.
HOW IS GAUCHER DISEASE DIAGNOSED?
The doctor, usually a General Physician will want to understand the symptoms, how long the symptoms have been in existence and also the family history, especially of Gaucher Disease. If detected in childhood, a Pediatrician will look into the problem. Blood tests are essential to make a final confirmation.
HOW IS GAUCHER DISEASE TREATED?
Enzyme replacement therapy is now available as an effective treatment for individuals who have symptoms from Gaucher disease. Enzyme replacement therapy helps to stop progression and often reverse many of the symptoms of Gaucher disease, but does not affect the nervous system involvement. Several other therapies including oral treatments are in various stages of development. Other treatments that have been required include: removal of the spleen (splenectomy), blood transfusions, pain medications, and joint replacement surgery.
DID YOU KNOW?
With earlier treatment, chances of recovery are higher and complications that arrive later along with diseases like arthritis can be avoided too.