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Fibrous Dysplasia Treatment in Pune
We offer comprehensive fibrous dysplasia treatment at Sancheti Hospital’s Ortho Onco Department, focusing on bone preservation and recovery.
Overview
Fibrous Dysplasia is a rare bone condition where healthy bone tissue gets replaced with abnormal, scar-like fibrous tissue. This replacement weakens the affected bones, making them more likely to break and become deformed. The good news is that Fibrous Dysplasia is a benign bone disorder, meaning it’s not cancerous and doesn’t spread from one bone to another.
This condition can affect just one bone (called monostotic fibrous dysplasia) or multiple bones throughout the body (known as polyostotic fibrous dysplasia). The severity varies greatly from person to person – some people have mild symptoms while others face more serious challenges.
In some cases, Fibrous Dysplasia occurs as part of a broader condition called McCune-Albright Syndrome. This syndrome includes bone problems plus distinctive skin spots called cafe-au-lait spots and hormone-related issues. These additional symptoms happen because the same genetic change affects different parts of the body.
Symptoms
The symptoms of Fibrous Dysplasia depend on which bones are affected and how severely. Some people with mild cases may have no symptoms at all and only discover the condition during X-rays for other reasons. Others, especially children with more severe forms, may experience symptoms early in life.
Common symptoms include:
- Bone pain – This can range from mild aching to severe pain, often getting worse when the fibrous tissue expands or when fractures occur
- Bone deformity – Weakened bones may bend or become misshapen, particularly in the thighbone where it creates a “shepherd’s crook” shape
- Fractures – The fragile nature of affected bones increases the risk of breaks, sometimes being the first sign of the condition
- Limping or difficulty walking when leg bones are involved
- Swelling in affected areas, which may or may not be painful
- Scoliosis – Spinal curvature that can sometimes become severe
When Fibrous Dysplasia affects the skull and face, additional symptoms may include:
- Facial asymmetry or visible lumps on the skull
- Stuffy nose or breathing difficulties
- Dental problems or jaw misalignment
- Eyes that bulge out or sit at different levels
- Vision or hearing problems if expanding bone puts pressure on nerves
In McCune-Albright Syndrome, hormone-related symptoms also occur:
- Precocious puberty – Early puberty, especially common in girls
- Overactive thyroid causing anxiety, weight loss, and rapid heartbeat
- Excessive growth hormone leading to unusually fast growth
Hypophosphatemia – Low phosphate levels in blood causing soft bones and increased fracture risk
Causes
Fibrous Dysplasia is caused by a specific genetic change called a GNAS gene mutation. This mutation makes a protein called Gsα constantly active, which disrupts normal bone development. Instead of forming strong healthy bones, the affected cells produce weak fibrous tissue.
What makes this condition unique is that the GNAS gene mutation happens randomly during early pregnancy, not at conception. This means only some cells in the body carry the mutation, creating a “mosaic” pattern. The symptoms a person experiences depend on which cells are affected and how many.
Because this genetic change happens randomly after conception, Fibrous Dysplasia is not inherited from parents and cannot be passed to children. Scientists are still studying why these random mutations occur, but there’s nothing parents can do to prevent or cause this condition.
Risk Factors
Unlike many other conditions, Fibrous Dysplasia doesn’t have typical risk factors. Since it’s caused by a random GNAS gene mutation that occurs early in development, factors like race, gender, lifestyle, or environment don’t influence who develops the condition.
The mutation happens completely by chance, meaning anyone can be affected. While the condition is usually diagnosed in children and young adults, it’s actually present from birth – it just may not cause noticeable symptoms until later.
Diagnosis
Diagnosing Fibrous Dysplasia can be challenging because it’s rare and symptoms vary widely. Many cases are discovered accidentally during X-rays for other reasons. The diagnosis process typically involves several steps:
Physical Examination: Doctors look for characteristic features like cafe-au-lait spots and examine areas of pain or deformity.
Imaging Tests
- X-rays – Often show a characteristic “ground glass” appearance in affected bones
- CT scans and MRI scans – Provide detailed images to assess the extent of the condition
- Bone scans – Use radioactive tracers to identify all affected areas throughout the skeleton
Laboratory Tests: Blood and urine tests can detect elevated enzymes or hormones that indicate increased bone activity or hormone problems.
Bone Biopsy: This is the most definitive test, where a small sample of affected bone is examined under a microscope to confirm the diagnosis.
Genetic Testing: While not always necessary, genetic tests can detect the GNAS gene mutation, though clear clinical and imaging findings often provide sufficient evidence.
One major challenge is diagnostic delay – it can take years from first symptoms to final diagnosis. This happens because the condition is rare and can mimic other bone diseases.
Types
Fibrous Dysplasia is classified based on how many bones are affected:
Monostotic Fibrous Dysplasia: This type affects only one bone and typically causes fewer symptoms. Many cases are found incidentally and may not require treatment beyond monitoring.
Polyostotic Fibrous Dysplasia: This more extensive form involves multiple bones and tends to cause more symptoms, including chronic bone pain, frequent fractures, and significant bone deformity.
McCune-Albright Syndrome: This is a specific type where Fibrous Dysplasia occurs alongside skin spots and hormone problems. The severity can range from mild to severe, sometimes affecting almost the entire skeleton.
There’s also a very rare subtype called Mazabraud’s Syndrome, which combines Fibrous Dysplasia with benign muscle tumors.
Stages
Fibrous Dysplasia doesn’t follow traditional disease stages like cancer. Instead, it’s characterized by its activity level over time.
The condition is most active during childhood and adolescence when bones are growing. Most significant bone lesions appear during the first few years of life and expand as the child grows. Very few new lesions develop after age 15.
In adulthood, the disease activity generally decreases and reaches a plateau. While existing lesions may still cause problems, they typically don’t expand as rapidly as during childhood. This understanding helps doctors plan long-term treatment strategies.
Treatment
Currently, there’s no cure for Fibrous Dysplasia, so treatment focuses on managing symptoms and preventing complications. A team of specialists often works together to provide comprehensive care.
Observation For mild cases with no symptoms, doctors may recommend regular monitoring without immediate treatment.
Medications
- Bisphosphonates – Drugs like pamidronate help reduce bone pain by slowing bone breakdown, though they don’t significantly strengthen bones or prevent fractures
- Hormone treatments – For McCune-Albright Syndrome, various medications manage hormone problems like early puberty, overactive thyroid, or growth hormone excess
- Hypophosphatemia treatment – Phosphorus supplements and vitamin D help normalize blood phosphate levels
Surgery Surgical options are often needed for symptomatic cases:
- Surgical resection – Cutting and reshaping bone to correct deformities
- Internal fixation – Using screws, plates, or rods to stabilize bones and prevent fractures
- Patient-specific implants – Custom-made implants designed from CT scans for complex reconstructions, offering precise fit and better outcomes
- Bone grafting – Less commonly used, as grafts tend to be replaced by abnormal tissue
Rehabilitation
Physical therapy plays a crucial role in managing Fibrous Dysplasia. It helps patients maintain strength and mobility while reducing the risk of complications.
Key rehabilitation goals include:
- Maintaining joint flexibility and range of motion
- Strengthening muscles around affected bones for better support
- Improving walking patterns and balance
- Helping recovery after surgical procedures
- Teaching safe activities to prevent fractures
For people with skull and face involvement, additional support may be needed for vision or hearing problems. Regular follow-up ensures rehabilitation strategies adapt to changing needs over time.
Complications
Fibrous Dysplasia can lead to several serious complications:
- Fractures – The most common problem due to weakened bones
- Bone deformity – Progressive bending or shortening of affected bones
- Scoliosis – Spinal curvature that can become severe and affect breathing
- Vision and hearing loss – When expanding skull lesions press on nerves
- Aneurysmal bone cysts – Fluid-filled cavities that can cause sudden pain and require urgent treatment
- Hypophosphatemia – Leading to soft bones and increased fracture risk
- Malignant transformation – Very rare (less than 1%) conversion to bone cancer like osteosarcoma
Prevention
Since Fibrous Dysplasia is caused by a random GNAS gene mutation that occurs early in development, it cannot be prevented. There are no known ways to stop this genetic change from happening.
However, complications can often be prevented or managed through:
- Early diagnosis and treatment
- Regular monitoring for changes
- Proper management of hormone problems in McCune-Albright Syndrome
- Prompt treatment of fractures and deformities
- Maintaining good overall bone health
Living With Fibrous Dysplasia
Managing Fibrous Dysplasia requires ongoing care and adaptation, but many people with the condition live full, active lives.
Regular Medical Care: Consistent follow-up with healthcare providers is essential to monitor the condition and address any new problems quickly.
Multidisciplinary Team: Because the condition can affect multiple body systems, a team of specialists often provides the best care, including orthopedic surgeons, hormone specialists, and other experts as needed.
Pain Management: Various strategies help control bone pain, from simple pain relievers to specialized medications like bisphosphonates.
Staying Active: Physical therapy and appropriate exercise help maintain strength and function while reducing the risk of complications.
Key Takeaways
- Fibrous Dysplasia is a rare benign bone disorder caused by a random GNAS gene mutation that occurs during early development
- The condition can affect one bone (monostotic) or multiple bones (polyostotic), with varying severity
- McCune-Albright Syndrome includes Fibrous Dysplasia plus skin spots and hormone problems
- Common symptoms include bone pain, fractures, and bone deformity, with specific concerns for skull involvement
- Diagnosis relies on imaging studies and sometimes bone biopsy, though diagnostic delay is common
- Treatment focuses on symptom management using medications, surgery, and patient-specific implants for complex cases
- Physical therapy and regular monitoring are essential for optimal outcomes
- While complications like fractures and scoliosis can be serious, proper management significantly improves quality of life
At Sancheti Hospital, we understand the complexity of managing rare bone disorders like Fibrous Dysplasia. Our multidisciplinary team of orthopedic specialists, endocrinologists, and rehabilitation experts work together to provide comprehensive care for patients with this condition.
We offer advanced diagnostic imaging, specialized surgical techniques including patient-specific implants, and comprehensive rehabilitation services. Our experienced team is committed to helping patients achieve the best possible outcomes through personalized treatment plans that address both the physical and emotional aspects of living with Fibrous Dysplasia.
With our state-of-the-art facilities and patient-centered approach, we strive to improve quality of life and functional outcomes for every patient we serve.
Meet Our Ortho Onco Specialist
Patient Stories & Experiences
The pain in my left knee left me feeling helpless for years. After my treatment here, I can finally say I'm pain-free.
Vinita Singh
The nerves were swollen, and the body went numb. But thanks to Sancheti Hospital, I got a second life!
Parvati
I finally could walk again, a relief I've only felt after the hip pain surgery. I thank the doctors at Sancheti Hospital for their help.
Balaji Kharat
I'm a police officer, and I'm extremely thankful to Sancheti Hospital for treating my fracture without surgery.
Shantilal
My life has completely changed after the knee replacement surgery at Sancheti Hospital. It's like I can finally live again!
Kalpana Lepcha
The knee pain I've carried for years finally went away with the help of Sancheti Hospital.
Karuna
I can't believe that I get to finally live a normal and happy life, all thanks to the knee surgery I had at Sancheti Hospital.
Kishore Bhosle
Frequently Asked Questions
Will my child with Fibrous Dysplasia have a normal lifespan?
Yes, most people with Fibrous Dysplasia live normal lifespans. While the condition requires ongoing management, it doesn’t typically affect life expectancy when properly treated.
Can people with Fibrous Dysplasia play sports or exercise?
Light to moderate exercise is often encouraged, but high-impact activities should be avoided due to fracture risk. Your doctor can recommend safe activities based on which bones are affected.
How often do bones break in people with Fibrous Dysplasia?
Fracture frequency varies greatly. Some people never experience fractures, while others with severe cases may have multiple breaks. Proper treatment and precautions can significantly reduce this risk.
Will the bone lesions keep growing throughout life?
Most lesions stop growing after age 15-20 when skeletal maturity is reached. Adult lesions typically remain stable, though they may still cause symptoms.
Can pregnancy affect Fibrous Dysplasia or vice versa?
Pregnancy is generally safe for women with Fibrous Dysplasia, though hormone changes may temporarily increase bone pain. It’s important to discuss pregnancy plans with your healthcare team for proper monitoring.
