Gaucher Disease is a condition where the fatty substances accumulated in the body tend to form a coating over the bones, organs and even the spleen area. The most common symptoms here include pain in the abdomen area, blood disorders followed with skeletal abnormalities. However, the risks here are that the same impacts the brain too.
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?
Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).