A fibrous dysplasia is a rare bone disorder caused by abnormal scar-like tissue replacing some of your bone cells. This tissue is weaker than normal bone, leading to problems such as:
Bone pain
Bone deformity
Bone fractures
Bone infection
Nerve compression
It occurs most often in the legs, arms, skull, and ribs. It can affect one bone (monostotic) or multiple bones (polyostotic). Sometimes fibrous dysplasia is associated with other conditions such as:
McCune-Albright syndrome: This is when you have fibrous dysplasia along with skin pigmentation (café-au-lait spots) and hormonal problems (such as early puberty, thyroid problems, or diabetes).
Mazabraud syndrome: This is when you have fibrous dysplasia along with soft tissue tumors (myxomas) in your muscles.
The genetic mutation that causes fibrous dysplasia occurs early in your development, before you are born. The mutation affects a gene called GNAS, which controls cell growth and differentiation. The mutation causes some of your bone cells to behave abnormally and produce fibrous tissue instead of normal bone.
It is a random mutation that occurs by chance. You or your mother did nothing to cause fibrous dysplasia. It is not inherited.
When fibrous dysplasia is diagnosed in childhood or adolescence, it may not be discovered until adulthood. Your doctor may suspect fibrous dysplasia based on your symptoms, physical exam, and medical history. In order to confirm the diagnosis, your doctor may order some tests, including:
It is possible to see fibrous dysplasia on X-rays, which shows a mixture of dense and lucent bone areas. The affected bones may also look swollen, curved, or fractured.
Fibrous dysplasia often appears as "hot spots" on a bone scan, indicating increased blood flow and metabolism in the affected bones.
MRIs use magnetic fields and radio waves to produce detailed images of your bones and soft tissues. MRIs can indicate the extent of fibrous dysplasia as well as possible complications, such as nerve compression.
It involves taking a small sample of your bones and examining them under a microscope. A biopsy can confirm the presence of fibrous tissue and rule out other possible causes of your bone problems, such as cancer.
There is no cure for fibrous dysplasia, but there are treatments that can help you manage your symptoms and prevent complications. The type of treatment you need depends on several factors, such as:
The number and location of the affected bones
The severity of your symptoms
The risk of complications
Your age and overall health
Your personal preferences and goals
Some of the possible treatments for fibrous dysplasia include:
Inflammation and pain in the bones may be relieved with medication prescribed by your doctor. Examples include nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen or naproxen, or bisphosphonates, such as alendronate or zoledronic acid. Bisphosphonates slow the breakdown of bone and reduce fibrous tissue growth. However, they can cause stomach upset, jaw problems, or kidney damage. The use of these drugs should only be done under the supervision of your doctor, and you should carefully follow the instructions.
A doctor may recommend surgery to correct a bone deformity, fix a bone fracture, remove an infection in the bone, or decompress a nerve in your body. Surgery can improve your function, appearance, and quality of life. However, it also has some risks, such as bleeding, infection, nerve damage, and recurrence of fibrous dysplasia. You should discuss the risks and benefits of surgery with your doctor and weigh your options carefully.
A physical therapist may be able to help you strengthen your muscles, improve your range of motion, and prevent stiffness and contractures by referring you to him or her. Additionally, physical therapy can help you cope with pain and improve your mobility and balance. In order to protect your damaged bones and prevent further injury, you may need assistive devices, such as braces, crutches, or walkers.
Lifestyle changes: You can also take some steps to improve your health and well-being, such as:
Eating a balanced diet that provides enough calcium and vitamin D for your bones
Avoiding smoking and excessive alcohol, which can harm your bones
Getting regular exercise, which can help you maintain your muscle and bone strength
Protecting your bones from trauma, such as falls or accidents
Managing your stress, which can affect your mood and immune system
Seeking emotional support from your family, friends, or a counselor, who can help you cope with your condition and its impact on your life
Fibrous dysplasia can cause various complications, depending on the location and extent of the disease. Some of the possible complications are:
As a result of fibrous dysplasia, your bones grow abnormally and become misshapen. For instance, fibrous dysplasia in your skull can result in facial asymmetry, bulging eyes, or hearing loss. You can get scoliosis, kyphosis, or spinal stenosis as a result of fibrous dysplasia in your spine. Leg length discrepancy, limping, and difficulty walking can occur with fibrous dysplasia in your legs.
Those with fibrous dysplasia are more likely to break their bones. This can cause pain, swelling, bruising, and bleeding. Your broken bones may need to be fixed by surgery to prevent further damage. Your bone may also need to be immobilized and allowed to heal with a cast, splint, or brace.
It is possible for fibrous dysplasia to cause bone infections, also known as osteomyelitis, if bacteria enter your bone through a wound, surgery, or bloodstream. You may need antibiotics to treat the infection, and surgery to drain the pus and remove the infected bone. Bone infections can cause fever, chills, redness, warmth, and pus around the bone.
Your bones may press on your nerves as a result of fibrous dysplasia, resulting in pain, numbness, tingling, or weakness in the affected area. For example, fibrous dysplasia in your skull can compress your optic nerve and cause vision problems. Your spinal cord may be compressed by fibrous dysplasia, which may lead to paralysis. In order to restore your function and relieve pressure on your nerve, surgery may be necessary.
It is rare for fibrous dysplasia to turn into cancerous tumors. This occurs when the abnormal fibrous tissues become more aggressive and begin to invade and destroy your normal tissues. The most common type of cancer that develops from fibrous dysplasia is osteosarcoma, a bone cancer. Malignant transformation can result in severe pain, swelling, weight loss, and fatigue. Cancer may be treated with chemotherapy, radiation therapy, and surgery.
There is no way to prevent fibrous dysplasia, as it is caused by a random genetic mutation that occurs before you are born. However, you can take some steps to prevent or reduce the complications of fibrous dysplasia, such as:
Following your doctor’s advice and treatment plan
Having regular check-ups and tests to monitor your condition and detect any problems early
Taking good care of your bones and overall health
Seeking help and support when you need it
A rare bone disorder, fibrous dysplasia affects the way your bones grow and develop, causing a variety of symptoms and complications, including bone pain, deformity, fracture, infection, nerve compression, and malignancy. In spite of the fact that fibrous dysplasia cannot be cured, you can manage it and improve your quality of life with treatments. Follow the recommendations of your doctor and other healthcare professionals to find the best treatment for you. You should also take care of yourself and seek support from your family, friends, or a counselor. Although fibrous dysplasia can be challenging, you can still live a fulfilling and productive life.
