Summary about Disease
Fibrous dysplasia (FD) is a rare, non-inherited (not passed down from parents) bone disorder where normal bone is replaced by fibrous, scar-like tissue. This abnormal tissue weakens the bone and can lead to pain, fractures, deformity, and other problems. FD can affect a single bone (monostotic) or multiple bones (polyostotic). The severity and presentation vary widely.
Symptoms
Symptoms vary depending on the location and extent of affected bones. Common symptoms include:
Bone pain (ranging from mild to severe)
Bone fractures
Bone deformity (bowing of legs, facial asymmetry)
Limping
Nerve compression (leading to numbness, tingling, or weakness)
Vision or hearing problems (if skull bones are involved)
Hormonal problems (in some polyostotic forms, such as precocious puberty in girls with McCune-Albright syndrome)
Scoliosis
Causes
Fibrous dysplasia is caused by a sporadic (random) mutation in the GNAS1 gene. This mutation occurs after conception, meaning it is not inherited from parents. The mutated *GNAS1* gene disrupts the normal differentiation and maturation of bone-forming cells (osteoblasts), leading to the formation of fibrous tissue instead of healthy bone.
Medicine Used
There is no specific cure for fibrous dysplasia. Medical management focuses on managing symptoms and preventing complications. Medications used may include:
Bisphosphonates: These medications (e.g., pamidronate, zoledronic acid) can help strengthen bones, reduce bone pain, and decrease the risk of fractures.
Pain relievers: Over-the-counter or prescription pain medications can help manage bone pain.
Denosumab: This is a monoclonal antibody that can also increase bone density and reduce fracture risk.
Hormone therapies: Used to manage hormonal imbalances, such as precocious puberty.
Is Communicable
No, fibrous dysplasia is not communicable. It is not contagious and cannot be spread from person to person. It is caused by a genetic mutation that occurs after conception and is not infectious.
Precautions
Precautions for individuals with fibrous dysplasia include:
Regular medical follow-up: To monitor the progression of the disease and manage symptoms.
Fall prevention: Taking measures to reduce the risk of falls, such as using assistive devices (canes, walkers) and modifying the home environment.
Weight management: Maintaining a healthy weight to reduce stress on affected bones.
Vitamin D and calcium supplementation: To support bone health (as directed by a physician).
Protective gear: Wearing appropriate protective gear during activities that could increase the risk of injury.
How long does an outbreak last?
Fibrous dysplasia is not an infectious disease with outbreaks. It is a chronic condition that can be present throughout a person's life. The symptoms can fluctuate in severity over time, but it does not resolve like an acute infection.
How is it diagnosed?
Diagnosis of fibrous dysplasia typically involves:
Physical examination: To assess symptoms and identify any bone deformities.
X-rays: To visualize the abnormal bone structure characteristic of FD.
Bone scan: To determine the extent of the disease and identify affected areas.
CT scan: Provide more detailed images of the affected bone and any potential complications
MRI: To evaluate soft tissue involvement and nerve compression.
Bone biopsy: A small sample of bone tissue is removed and examined under a microscope to confirm the diagnosis.
Genetic testing: While not always necessary, genetic testing can confirm the GNAS1 mutation.
Endocrine testing: To determine any hormonal involvement if suspected.
Timeline of Symptoms
The onset and progression of symptoms can vary significantly.
Childhood/Adolescence: FD is often diagnosed in childhood or adolescence when bone deformities, pain, or fractures become apparent.
Progression: The disease can progress gradually over time, with new lesions developing or existing lesions enlarging.
Stabilization: In some cases, the disease may stabilize after skeletal maturity.
Adult Onset: Rarely, FD can present or be diagnosed in adulthood.
Important Considerations
Multidisciplinary Care: Management of FD often requires a multidisciplinary team of specialists, including orthopedists, endocrinologists, radiologists, and geneticists.
Individualized Treatment: Treatment plans should be tailored to the individual patient's specific needs and the extent of the disease.
Long-Term Monitoring: Regular follow-up is essential to monitor for complications and adjust treatment as needed.
Psychological Support: Living with a chronic condition like FD can be challenging, and psychological support may be beneficial.
McCune-Albright Syndrome: Be aware of the association with McCune-Albright syndrome (MAS), a rare genetic disorder that causes FD along with skin pigmentation (café-au-lait spots) and endocrine problems.