The primary tool for diagnosis of fibrous dysplasia is an X-ray. While bone appears solid in an X-ray, a fibrous dysplasia lesion has a relative distinct appearance often described as "ground glass." The condition may be diagnosed, therefore, even in a person with no symptoms who is getting an X-ray for other reasons.
An X-ray can also help your doctor determine how much of the bone is affected and whether there is any deformity in the bone.
Additional tests may be used to confirm a diagnosis or rule out other disorders:
- Imaging tests. Computerized tomography and magnetic resonance imaging can produce cross-sectional or 3-D images of bone. These tools can help your doctor better characterize the quality of bone or a fracture associated with fibrous dysplasia.
- Bone scan. A bone scan is a nuclear imaging test. A small amount of radioactive tracer is injected into your bloodstream and taken up by damaged portions of bone. When your body is scanned with a specialized camera, the images can help a doctor identify multiple fibrous dysplasia lesions.
- Biopsy. This test uses a hollow needle to remove a small piece of the affected bone for microscopic analysis. The structure and arrangement of cells can confirm a fibrous dysplasia diagnosis.
If you have mild fibrous dysplasia that's discovered incidentally and you have no signs or symptoms, your risk of developing deformity or fracturing your bone is low. Your doctor will likely monitor your condition with periodic X-rays.
Osteoporosis medications called bisphosphonates help prevent bone loss by decreasing the activity of cells that normally dissolve bone. Some studies suggest that bisphosphonates may strengthen bones affected by fibrous dysplasia and may relieve bone pain.
Your doctor may recommend surgery in order to:
- Correct a deformity
- Correct a difference in limb lengths
- Repair a fracture that does not heal with casting
- Prevent fractures
- Relieve pressure on a nerve, particularly if the lesion is in your skull or face
Surgery may involve removing the bone lesion and replacing it with a bone graft: bone from another part of your body, bone tissue from a donor or a synthetic material. In some cases a fibrous dysplasia lesion may develop again.
Your surgeon also may insert metal plates, rods or screws to prevent fractures or to stabilize a bone or bone graft.
Preparing for your appointment
Most people with fibrous dysplasia don't have symptoms and are diagnosed when an X-ray taken for another reason reveals signs of fibrous dysplasia.
However, in some cases you or your child may experience pain or other symptoms that lead you to schedule an appointment with your family doctor or your child's pediatrician. In some cases, you may be referred to a doctor who specializes in treating bone and muscle injuries or disorders (orthopedic surgeon).
What you can do
Before your appointment, you might want to compose a list of answers to the following questions and be ready to discuss them with your doctor:
- When did symptoms begin?
- How severe are the symptoms?
- Have symptoms been continuous or occasional?
- Does any specific activity make the symptoms worse?
- Does anything relieve symptoms?
- Does pain wake you or your child at night?
- Is the pain or deformity getting better, staying the same or getting worse?
- What medications or supplements do you or your child take regularly?