Gaucher disease is characterized by the build-up of the fat molecule glucocerebroside in various organs and tissues in the body, including the bone marrow. There are serious musculoskeletal manifestations of Gaucher disease, such as increased bone weakness and porosity, as well as loss of calcium from the bones. Skeletal disease and bone lesions lead to further joint damage, making patients prone to frequent fractures and delayed healing.
It is crucial to recognize and understand these symptoms at an early stage to determine the best treatment plan. If caught early, non-invasive treatment options can be used to manage Guacher-associated skeletal disease. However, many patients may require surgical interventions.
For those who have developed irreversible joint damage, joint replacement surgery is the only option.
Bone infarction, or avascular necrosis of the hip, is the most severe manifestation requiring surgical intervention in Gaucher disease. It is caused by insufficient oxygen supply to the bone due to the build-up of glucocerebroside. This lack of oxygen causes the bone tissue to start deteriorating, which affects the joint strength and range of motion. In most cases, surgery is the main treatment approach for avascular necrosis of the hip, with two surgical options available
Core decompression surgery
The invasiveness of core decompression surgery depends on the extent of damage, and the severity of the symptoms reported.
The surgeon cuts a small incision on the thigh through which the damaged bone can be accessed. A small channel is then drilled into the bone to create space for oxygen flow. New blood vessels can enter the top of the thigh bone (femur) through this channel to help resorption and speed repair processes. An injection of laboratory-made bone morphogenic protein (BMP2) — a growth factor that induces the growth and repair of bones — can also be administered into the damaged bone area to support healing.
This surgery can usually be performed as an outpatient procedure. However, the patient will need to wear a hip abduction brace for around six months after surgery. The hip abduction brace holds the thighs and the hips in place to limit their range of motion and promote healing.
Femoral head reduction osteotomy
In advanced stages of bone infarction, highly invasive and complicated surgery is required to repair the damage. In the hip, the rounded head of the thigh bone, called the femoral head, fits into a socket in the pelvis, helping provide smooth movement. Femoral head reduction osteotomy is a multi-step surgery in which the femoral head is removed from the hip joint so surgeons can see the extent of damage caused by bone infarction. The damaged bone is cut out surgically and replaced with a bone graft — a healthy bone or bone substitute. BMP2 is injected to promote healing. The area is then reshaped into a rounded structure and held in place in the hip sockets with the help of external stabilizing frames.
Once the femur has healed, the external frame is replaced with internal screws to hold the hip joint in place.
This is a major surgery requiring hospitalization. The healing process is slow and should not be rushed. Pain and discomfort from the surgery can last for a long time. After the surgery, physiotherapy is essential to regain strength, stability, and range of motion in the hip.
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