Gaucher Disease

What is Gaucher disease?

Gaucher disease is a rare genetic disorder that has a few different names: glucocerebrosidase deficiency, sphingolipidosis 1 or kerasin lipoidosis. There are three different subdivisions for this disease: Gaucher disease type 1, Gaucher disease type 2 and Gaucher disease type 3.

The symptoms vary based on the different types of the disease. Some patients may be asymptomatic while others can have severe symptoms. Type 1 Gaucher disease, the most common type, may present with anemia, fatigue, enlarged spleen, enlarged liver, bone pain and fractures. Type 2 Gaucher disease presents with seizures, difficulty swallowing and enlarged organs. Gaucher disease type 3 may have bone involvement, enlarged organs and neurological involvement.

Patients with Gaucher disease can have many different bone problems. They can have bone pain, bone crisis (which is pain due to decreased blood flow to the bones), avascular necrosis (bone dies due to a lack of blood supply), osteopenia (when bones are weaker than normal), spontaneous fractures and joint damage.

What causes Gaucher disease?

Gaucher disease falls under lysosomal storage disorders. It is caused by a deficiency in an enzyme called glucocerebrosidase. This enzyme is responsible for breaking down fat into energy that the body can use. When there is a lack in the enzyme, the fat accumulates in different organs such as bone marrow, liver, spleen, etc.

How common is Gaucher disease?

Gaucher disease is a rare disease which can affect anybody; it is seen in 1 in 50,000-100,000 births. This disease is more common in Ashkenazi (Eastern and Central European) Jews, affecting 1 in 450 births.

How is Gaucher disease diagnosed?

Gaucher disease is diagnosed with monitoring of glucocerebrosidase activity in the blood.

What are the treatment options for Gaucher disease?

Gaucher disease can be treated with enzyme replacement therapy or substrate reduction therapy. Enzyme replacement therapy is when patients will receive the enzyme via intravenous infusions. Substrate reduction therapy will decrease the amount of glucocerebroside that is produced in the body. Orthopedic issues that arise are addressed with orthopedic surgery when necessary.

Why choose the International Center for Limb Lengthening for treatment of Gaucher disease?

Your doctor at the International Center for Limb Lengthening will take the time to make sure you understand all your options and then will customize your treatment to meet your specific needs. Our patients benefit from our team-centered approach with world-renowned surgeons and specialized physician assistants, nurses and physical therapists. We help patients with orthopedic problems from Gaucher disease achieve their best possible result.

Doctors who treat Gaucher disease

†Children and Adolescents/Young Adults Only