Fibrous dysplasia is a rare disorder of the skeleton in which scar-like tissue begins to grow in place of normal bone. This developmental abnormality usually occurs in adults or children aged between 3 to 9 years. Sometimes not diagnosed until adulthood, the disease often results in several bone deformities, brittle bone, bone pain, and uneven growth of bones. The ailment is common in both males and females. While the exact reason of fibrous dysplasia is not known, primarily it is caused by a GS alpha protein mutation leading to a defect in a specific bone protein.
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What Bones Get Affected?
Fibrous Dysplasia can occur in any part of the bone when one or more bones can be affected at any one time. In general, the most affected bones include the following:
- Facial bones
- Pelvis
- Ribs
- Tibial bone
- Skull
- Femur or thigh bone
- Upper arm bone also called the humerus bone
- The vertebrae located in the spine
Symptoms Of Fibrous Dysplasia?
Every person suffering from this ailment will experience the symptoms differently and according to their bone health. While some people with fibrous dysplasia have no symptoms or only a few symptoms, some may have acute signs and severe pain. Following are the most common symptoms of fibrous dysplasia that one should look for:
- Facial asymmetry affecting a child's face or skull
- Bone deformity
- Bone fractures due to weak bone structure
- Bone pain due to expansion of fibrous tissue or due to fibrous tissue making bone changes
- Scoliosis
- A wobbling walk
- Bone pain due to injuries and fractures
How Is Fibrous Dysplasia Diagnosed?
The doctors will take a complete medical history and physical exam, and then advise some tests and scans that may include some or all of the following:
Biopsy. A tissue sample is removed from the body and scrutinized under a microscope. The test can help determine the presence of bone cancer. It can also help to detect and remove abnormal tissues in the affected bone.
Bone Scan. A bone scan is done to look for additional lesions throughout your entire skeleton. This test needs a very small amount of radioactive dye to be injected into the body.
Lab Tests. When fibrous dysplasia lesions have started to grow actively, blood and urine lab tests are done. Most of the time the results show elevated levels of enzymes in the body.
Imaging Tests. MRI or CT scan is also advised to further evaluate the affected bones besides X-rays are done to check and take images of internal tissues, bones, and organs.
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How Can Fibrous Dysplasia Be Treated ?
When it comes to possible treatment options for fibrous dysplasia, there are limited options to cure the ailment. A specific treatment plan is decided by the health provider based on the patient’s age, health condition, and by taking detailed medical history. Treatment begins with managing and curing the pain, and physical therapy to help strengthen muscles besides putting cast, braces, or splints to immobilize fractures or improve mobility. Surgery may become necessary if a bone affected by the disorder has broken down. Surgery is an effective resort that involves partial removal of the affected bone, total repair of fractures, treat scoliosis, and managing severe pain that the ailment may bring. Placement of a rod down the bone shaft and removal of the affected bone, followed by bone grafting and removing the bone wedge is also an effective possible treatment option.