Fibrous Dysplasia

Fibrous dysplasia is a condition in which scar ( fibrous ) tissue  replaces the normal tissue in bones. This deforms the bone and increases the risk of fractures . In most cases of fibrous dysplasia only one bone is affected . This disease usually affects adolescents and adults. More than one bone can be affected if it occurs in children below the age of 10. This condition is genetic and has no cure. Treatment is usually surgery.

There are a few or no signs and symptoms of fibrous dysplasia in mild cases.  Severe cases can present with the following signs and symptoms:

-Bone pain

-Bone deformities

-Fractures

-Nerve entrapment

Sometimes fibrous dysplasia may be accompanied by changes in the function of some endocrine glands. Symptoms of these changes include; early puberty, thyroid gland problems and presence of light brown spots on the skin.

Fibrous dysplasia is caused by a mutation in a gene that codes for the cells that produce bone. This mutation usually occurs in the early stages of fetal development and thus is not passed from parents to their children.

Making a diagnosis of fibrous dysplasia is done by performing several tests.

A physical examination and an X -ray of the affected bone may be performed if symptoms of fibrous dysplasia are present.

Tests that can confirm the diagnosis include:

• Imaging tests, like CT scan and MRI which can help doctors to evaluate the extent of the changes in the bone and bone scans. Bone scans use radioactive tracers that are injected into the bloodstream. These tracers mostly  accumulate  in the damaged bones when viewed using X-ray imaging.
• Biopsy of the bone tissue can also be used for lab analysis.

Several treatments for fibrous dysplasia are available for severe cases. They include:

• Medications for osteoporosis which can help to reduce the pain and risk of fractures. An example is pamidronate (Aredia).
• Surgery to correct a bone deformity, fix a fracture, remove the affected bone or to relieve pressure on a nerve caused by the affected bone.

People with mild cases of fibrous dysplasia require constant monitoring.

In cases where the bone is removed, it may be replaced by a graft from another part of the body, bone donated form a deceased donor. These bones are then fixed in place with rods or screw. There is a risk of infection or immune reaction due to the presence of foreign objects like screws in the body.

Learning more about fibrous dysplasia and joining support groups can help patients and their families to better cope with this condition.

Severe cases of fibrous dysplasia can lead to the following complications:

-Bone deformity or fractures

-Vision and hearing loss if the bones around the nerves going to the eyes or ears are affected.

-Arthritis

-Cancer of the affected bone