The Comprehensive Gaucher Treatment Center for Gaucher Disease at Tower Hematology Oncology, Beverly Hills
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Gaucher Disease
Bony Disease
  Evaluation Guidelines
Monitoring Guidelines

Bony Disease

As Gaucher cells accumulate in the bone marrow, the bones are affected in a number of ways, including decreased bone mass, weakened/thinning bones, increased risk of fracture, generalized bone and joint pain, bone infarction (sudden lack of oxygen due to a restriction of blood flow within the bone), immobility, bone deformities, and growth retardation in children.  Unfortunately, patients are frequently unaware of ongoing bony deterioration until they suffer from fractures.  80% of all known Gaucher patients have some degree of bone involvement.

A reduction of bone mass, called osteopenia or osteoporosis, is one of the most common skeletal manifestations of Gaucher disease.  The infiltration of Gaucher cells in the bone marrow causes the bones to become more porous over time, resulting in weakened bones that are more prone to fracture.  Treatment with enzyme replacement therapy may slow or even reverse this bone loss.  However, the addition of bisphosphonates (a class of drugs that inhibit the resorption of bone) is sometimes necessary to optimize benefit. 

Bone and joint pain are also common symptoms of Gaucher disease.  The pain is often generalized, likely caused by an inflammatory response to the presence of Gaucher cells, but may also be very intense and localized.  This severe bone pain – referred to as a “bone crisis” – occurs when the Gaucher cells accumulate to such a degree that normal blood flow is disrupted, thereby cutting off the oxygen supply.  (A “heart attack of the bone.”)  Long-term restriction of blood flow may result in necrosis (cell death) of the bone, leading to permanent bone damage, immobility, and the need for joint replacement surgery.  Treatment with enzyme replacement therapy may help to reduce, or even eliminate, episodes of bone pain and bone crises.

The presence of Erlenmeyer flask deformities is a frequent finding among Gaucher patients and is evident on X-Ray or MRI images of the bones.  An Erlenmeyer flask deformity is characterized by the flaring at the ends of the bones and is named for its resemblance to an Erlenmeyer flask – a type of beaker used in chemistry labs.

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