Symptom Management

There are a variety of treatments available to help manage the different symptoms of Type 1 Gaucher disease. Treatment will vary, depending on the course of your illness. Below are some of the more common symptoms of Type 1 Gaucher disease and the therapies with which they are managed. Be sure to talk with your physician about your signs and symptoms and options to address them.

Skeletal and joint pain

Gaucher patients may experience severe bone pain, called a “bone crisis,” thought to be caused, in part, by insufficient blood circulation to the bone due to interference from Gaucher cells. Analgesics may be used to control acute and chronic bone pain.

During bone crises, common analgesics are often insufficient to control pain and opioids may need to be used for a short period of time. Extended bed rest and/or hospitalization may be required.

Longstanding bone pathology usually leads to joint destruction as well, which may cause chronic pain. In addition to analgesics, orthopedic intervention may be necessary to control joint pain. These procedures include orthopedic surgical techniques to relieve pressure from damaged bony areas and/or the insertion of prosthetic devices, such as hip replacements, in joints that have been destroyed by the disease process. Gaucher patients may also need to use a cane or wheelchair or undergo physiotherapy exercises to assist with mobility.

Osteopenia

Osteopenia is a decrease in bone density. Certain drugs are used to treat osteopenia and may increase bone density.

Hematological complications

Patients with severe low red blood cell or platelet count decreases may be candidates for blood transfusions or splenectomy, removal of the spleen. However, today, splenectomy is generally not recommended and is rarely performed. When it is performed, spleen removal increases the susceptibility to severe bacterial infections and may lead to increased liver and skeletal symptoms. For these reasons, spleen removal is usually delayed as long as possible and partial spleen removal (which may be more difficult to perform) may be recommended over total removal.