• Overview
• Inheritance
• Symptoms
  • The Liver and Spleen
  • The Blood
  • The Bones
• Testing
• Treatment
• Resources

The Bones

Most people with Gaucher disease have problems with their bones, and this is often the most disabling aspect of the disease. The build-up of Gaucher cells in the bone marrow (tissue that produces blood cells and is found inside of the bones) can damage bones in several ways:

Avascular necrosis (osteonecrosis)
Accumulation of Gaucher cells in the bone marrow may restrict blood flow in the bone, destroying bone tissue. The most common site of avascular necrosis is where the femur (thigh bone) meets the hip. Sometimes, people with avascular necrosis need to have a replacement of the hip or other affected joint.

Osteopenia and fractures
Gaucher cell accumulation may also cause a reduction of bone mass. Bones that are thinner and weaker than normal may fracture easily.

Osteosclerosis
People with Gaucher disease may develop abnormal hardening along the shaft of the bones.

Erlenmeyer flask deformity
Gaucher disease may cause problems with the formation of new bone, resulting in changes in bone shape. Instead of having a rounded end, each femur may flatten at the knee joint, resembling a scientific instrument called an Erlenmeyer flask.

Lytic lesions
Parts of the bone that have become thinned or damaged may look like holes or cut-out areas on MRI. These "holes" are called lytic lesions.

Bone crises
These episodes occur in an area where Gaucher cells have interfered with normal blood flow to the bone. People experiencing a bone crisis have intense pain in the area and sometimes a fever. Bone crises are most common in childhood and adolescence, but they can happen at any age. Only some people with Gaucher disease have them.

Bone pain
Some people who don't have true bone crises still experience bone pain, which may be chronic.

Calcium Requirements
Since people with Gaucher disease are at high risk for weakening of their bones, it is especially important that they get enough calcium. Calcium is found in many foods, especially dairy products and some green vegetables, as well as in many vitamin supplements. The National Academy of Sciences' Food and Nutrition Board recently established new Adequate Intake (AI) values for calcium.

Management & Monitoring
The Center works with orthopedists and orthopedic surgeons (bone doctors), to provide the most comprehensive care of the bone abnormalities and bone pain described above.

In order to monitor the extent of bone disease and its response to treatment, yearly Magnetic Resonance Imaging (MRI) is done. A specific series of MRI images is performed on patients with Gaucher disease. The Center strongly recommends that the MRI studies be done at UCSF or Stanford because of the high quality of the machine and the staff's expertise in Gaucher disease.