“May all be happy, may all be healed, may all be at peace and may no one ever suffer."
Gaucher disease is a rare genetic disorder that results from a deficiency of an enzyme called glucocerebrosidase. This enzyme is responsible for breaking down a fatty substance called glucocerebroside, which accumulates in various organs of the body, such as the spleen, liver, and bone marrow. The accumulation of glucocerebroside can cause a variety of symptoms and complications.
There are three types of Gaucher disease, each with different symptoms and rates of progression:
Diagnosis of Gaucher disease may involve a physical exam, medical history, and diagnostic tests such as a blood test to measure the levels of glucocerebrosidase enzyme activity, or genetic testing to identify the specific mutation that causes the disease. Treatment for Gaucher disease may involve enzyme replacement therapy, which replaces the missing enzyme with a synthetic version, or substrate reduction therapy, which reduces the production of glucocerebroside. In some cases, a healthcare professional may recommend a bone marrow transplant to replace the defective bone marrow cells that produce the missing enzyme.
If you or a loved one is experiencing symptoms of Gaucher disease, it is important to seek medical attention for an accurate diagnosis and appropriate treatment. A genetic counselor may also be able to provide information and support for families affected by this rare condition.
Gaucher disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher changed (mutated) gene for their child to inherit the condition.
While there's no cure for Gaucher disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. Some people have such mild symptoms that they don't need treatment.
Your doctor likely will recommend routine monitoring to watch for disease progression and complications. How often you'll need to be monitored will depend on your situation.
Many people who have Gaucher disease have seen improvements in their symptoms after beginning treatment with:
If your symptoms are severe and you're not a candidate for less invasive treatments, your doctor might suggest: