Symptom Management

There are a variety of therapies and types of support available to help manage the different symptoms of Gaucher disease. Treatment will vary depending on the course of your patient’s illness. Below are some of the commonly used techniques to manage the symptoms of Gaucher disease.

Skeletal and joint pain

Gaucher patients may experience severe bone pain, called “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

Certain drugs are used to treat osteopenia and may increase bone density.

Hematological complications

In the past, Gaucher patients with severe low red blood cell counts, severe thrombocytopenia and/or hypersplenism were frequently considered for splenectomy. Today, however, splenectomy is generally not recommended. Splenectomy increases the susceptibility to severe bacterial infections, and may lead to increased liver and skeletal symptoms for patients with Gaucher disease. When splenectomy is considered today, it is usually delayed as long as possible and partial splenectomy (which may be more difficult to perform) may be recommended over total splenectomy.

Nutritional deficiencies

Mineral or vitamin supplements may be recommended for nutritional deficiencies that affect Gaucher patients, such as anemia and Vitamin B12 deficiency.

Gaucher Registry

For more than a decade, the Gaucher Registry has been a global resource to the medical and patient communities, helping to improve outcomes in patients with Gaucher disease. Learn more about participating in the Gaucher Registry »