Fibrous Dysplasia: Things You Need To Know

Orthopedics & Joint Replacement | by Dr. Rakesh Rajput | Published on 28/12/2022

What is fibrous dysplasia?

Fibrous dysplasia as the name suggests refers to the rare medical condition where our bodies replace healthy bones with fibrous bone-like tissues. This can increase the risk of injuries and fractures resulting in nerve compression and other complications. Fibrous dysplasia can occur in any individual at any age. Depending on the patient's medical health, fibrous dysplasia symptoms can be mild to severe. 

Read along to learn more about the condition and the effective options for fibrous dysplasia treatment. Please note that this blog is for informational purpose and the importance of doctor’s consultations cannot is irreplaceable. 

 

What are the common symptoms of fibrous dysplasia?

Fibrous dysplasia symptoms mostly vary depending on the number of bones affected, history of trauma or injury, area of the affected bones, etc. Sometimes, people suffering from fibrous dysplasia may not experience any signs or symptoms at all. However, in case the symptoms are apparent, you are likely to experience the following - 

• Fatigue (particularly in children)
• Bone Pain (happens when the fibrous tissue expands in the bone)
• Bone Fractures or breakage 
• Bone deformity
• Signs of underlying endocrine disorders like growth hormone excess, overactive thyroid and early puberty
• Nasal congestion
• Loss of vision or impaired hearing if specific nerves are compressed due to the fibrous bone tissue

 

How does fibrous dysplasia occur?

In medical definition, fibrous dysplasia occurs due to a gene mutation on chromosome 20 during the early stages of pregnancy. Researchers are still figuring out what exactly causes the genes to mutate, but there is nothing the parents can do to prevent it. Also, children cannot inherit the condition and neither passes the disease to their offspring. 

 

Diagnosing Fibrous Dysplasia: What are the Different Diagnostic Tests?

It is not easy to detect fibrous dysplasia since the symptoms can resemble certain medical conditions and injuries. The doctor diagnoses the condition to check the presence of other medical conditions. Fibrous dysplasia diagnosis involves a combination of physical examination and assessing your medical history. Additionally, to confirm the condition, the doctor may also recommend some tests to indicate fibrous dysplasia. Some of the tests include the following -

• Biopsy - This test is done to determine any abnormal cells in the body. The doctor takes tissue samples from the body and observes them under a microscope. It can also help determine the presence and extent of cancer or other abnormal cells. Biopsies are also performed to remove tissues from the affected bone.
• Bone scan -  The doctor may order a bone scan to look for additional lesions throughout the entire skeleton. During this test, a minimal amount of radioactive dye is injected into the body by IV.
• Blood tests, urine sampling, etc are recommended when fibrous dysplasia lesions are actively growing.  Blood and urine tests may reveal elevated levels of certain enzymes and amino acids in the body.
• Imaging tests - The doctor may also recommend an MRI or CT scan to further evaluate the affected bones.
• X-ray - This test generates a 3D image of the internal tissues, bones, and organs and guides the surgeon during the procedure.

 

How Is Fibrous Dysplasia Treated?

Specific treatment for fibrous dysplasia is based on your age, overall health, and medical history. The doctor may also ask you about any ongoing medications, therapies, and your history of surgical procedures for the best treatment option. For mild to moderate symptoms, the doctor may recommend medications to manage pain and discomfort. Additionally, there are therapies and in the worst-case scenario, surgical intervention. 

Since there is no known cause of fibrous dysplasia, the treatment aims to manage the symptoms and prevent the condition from progressing further. Medications such as bisphosphonates can help ease pain and help prevent fractures. For some people, braces can help prevent bone fractures.

Surgery may become necessary if the bone breaks after being affected by FD. The doctor may perform surgery to stabilize the bone, correct disfigurement and prevent further fractures. Depending on te severity of the condition, the doctors may use metal plates, rods or screws to stabilize the bones. 

 

Conclusion:

Fibrous dysplasia is a chronic disease which mostly affects children aged 3 to 15. The disease can remain silent until adulthood which causes apparent symptoms like bone pain, deformity, scoliosis, etc. More than one bone can be affected in the case of FD. Most common bones that are affected due to fibrous dysplasia include facial bones, skull, pelvis, ribs, tibia (shinbone), femur (thighbone), humerus (upper arm bone), and vertebrae in the spine. If you or your child is experiencing signs of fibrous dysplasia in the early stages, you must seek medical assistance to ensure the condition does not spread to other parts of the body. 

 

FAQs

 

Can I prevent fibrous dysplasia (FD)?

Since there is no exact cause of genetic mutation which leads to fibrous dysplasia, the condition cannot be prevented. 

 

When should I call my doctor for fibrous dysplasia treatment?

Get in touch with a doctor in case you are experiencing FD symptoms or if the condition becomes worse with time. Prolonging the treatment can result in complications and degrade the quality of life.

 

What are the complications of untreated fibrous dysplasia?

Fibrous bones can result in compression in the nerves which can result in complications such as vision loss, hearing impairment, nasal congestion, etc. Through rare, these complications can result in long-term health issues.