Fibrous dysplasia is a bone disease caused by a genetic mutation that leads to the accumulation of scar tissue in bones, causing weakness and deformities. It can affect one or multiple bones and is diagnosed through imaging tests. Treatment includes medication and surgery.
The bone disease fibrous dysplasia is characterized by the heavy accumulation of scar tissue within the bones. This scar tissue settles in place of normal, healthy bone, which leads to a gradual weakening of the scarred bones. The most commonly affected bones are the femur, tibia, pelvic bones, ribs, upper arm humerus, and skull or facial bones. Bones affected by this disease are susceptible to deformity and have a high risk of fracture.
The development of fibrous dysplasia is caused by a mutation in a gene called GNAS1, which is active in bone cells. This genetic mutation causes bone cells to deposit fibrous tissue instead of healthy bone. Unlike many other genetic diseases, this one is not hereditary. Instead, the mutation occurs spontaneously during fetal development.
This bone disease comes in two forms. In monostotic fibrous dysplasia, only one bone is affected by scar tissue deposition. About 70% of cases are of this type. In polyostotic fibrous dysplasia, the disease affects multiple bones. This form of the disease is often associated with McCune-Albright syndrome, which can lead to skin lesions and precocious puberty as well as bone dysplasia.
Often, people with the monostotic form of the disease don’t develop any symptoms. When multiple bones are involved, symptoms such as bone pain, bone deformities, and fractures are likely. These symptoms tend to develop in early childhood, often by the age of ten. People with polyostotic disease may also have difficulty walking if the thigh, shin, or pelvic bones are involved.
Preliminary diagnosis of fibrous bone dysplasia is typically made on the basis of symptoms such as bone pain and recurring bone fractures. The diagnosis is confirmed with imaging tests such as x-rays and MRIs. These tests pinpoint the location of diseased bone tissue and any bone deformities that may have developed.
Fibrous dysplasia is a chronic, progressive disease with no cure. If someone has the disease but doesn’t show any symptoms, they will have regular checkups to detect early signs of bone deformity. In these cases, treatment is not necessary unless signs and symptoms of the disease begin to develop.
Treatment for fibrous bone dysplasia includes both medications and surgical procedures. Drugs include pamidronate and alendronate, available under the brand names Aredia® and Fosamax®. These drugs help preserve healthy bone tissue and can increase bone density in some people. Most people take these medications by mouth; they are also available as intravenous injections for people who cannot tolerate the oral form due to gastrointestinal irritation.
Surgical treatments include procedures to repair severe fractures and cracks in the bone, correct bone deformities, and stabilize vulnerable bones with metal screws and plates. Bone deformities can also be prevented by internally fixing the bones with metal support structures.
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