Fibrous dysplasia

Fibrous dysplasia (FD) is a skeletal disorder in which the bone-forming cells fail to mature and produce fibrous tissue, or connective tissue. Skull bones, facial bones, thigh bones, shinbone, ribs, and upper arm bone are most commonly affected with FD.

If only one bone is affected it is termed as ‘monostotic fibrous dysplasia’. If multiple bones are affected then, it is termed as ‘polyostotic fibrous dysplasia’. FD is a genetic disorder. There is no exact cure for FD, and the treatment includes surgery and symptomatic relief.

Causes and Risk factors

The main cause for developing FD is a gene mutation. It affects the cells that produce the bone tissue. These mutations usually occur after conception, in the early phases of fetal development.

The disorder is inherited from the parents.

Diagnosis

Your doctor may ask you about your symptoms and perform a routine physical examination. If there are any signs of FD, your doctor would further order for confirmatory tests.

Imaging tests: Computerized Tomography (CT) scan or Magnetic Resonance Imaging scans (MRI) are ordered. This helps in determining the extent of bones affected.

Bone scan: This test helps in determining the damaged parts of the bone. For this radioactive tracers are injected into your blood stream. The damaged parts of the bones are shown brightly on the scan due to the absorption of the radioactive tracer.

Biopsy: Biopsy helps in the confirmation of the disease. For a biopsy, a small tissue is removed and analyzed.

Fibrous dysplasia radiology is also performed to get a clear picture of the bone deformities.

Symptoms

The most common fibrous dysplasia symptoms may include:

  • Swelling
  • Pain near the bones
  • Pigmentation on the skin
  • Deformities in the face or head

In severe cases fibrous dysplasia may cause complications such as:

Fractures: If once your bones get affected they tend to become weak. These weakened bones are more fragile and can easily undergo fractures.

Hearing loss or visual problems: There may be several nerves related to eyes and ears that are surrounded by the affected bone. In the case of severe deformity of the facial bones, you may have problems related to ear and eye sight. One such problem is glaucoma, which damages the optic nerve and causes permanent loss of vision.

Arthritis: You may be a victim of arthritis if the leg and pelvic bones are deformed. Osteoid osteoma is another complication related to the bones. It is a non-cancerous bone tumor that develops in the long bones of the body.

Cancer: It is rare, but there are chances that your affected bone may turn cancerous. You are more susceptible if you have had a radiation therapy earlier.

Nonsurgical treatment options include:
  • Your doctor would observe the lesions and monitor them, to check if they are causing any symptoms. For this, he/she would order for periodic X-rays or other relevant tests.
  • Your doctor would prescribe medications such as bisphosphonates. These drugs help in reducing the activity of cells that affect the bones.
Bracing: Your doctor might recommend for bracings to help prevent fractures.

Surgical intervention

Your doctor might schedule you for surgery to remove the lesions or to fix bone fractures. Surgery is recommended if you have:

  • Cancerous lesions that cause severe pain
  • Large lesions that may cause a future fracture
  • Lesions that cause symptoms and do not respond to the drugs
  • Break in the bone (fracture) in which there is a separation of bones
  • Hairline cracks in the bone which is hard to recover with castings and braces
Curettage: This is a surgical procedure used for the treatment of fibrous dysplasia. Here, the tumor is scraped out of the bone.
Bone graft: After performing curettage your doctor will fill the cavity or space with bone graft, this helps in stabilizing the bone. The bone graft inserted is taken from the donor or any other bone of your body. In the case of lack of these grafts, a synthetic bone material can be used for filling.
Internal fixing: To stabilize the bone or to prevent further breakage. Your doctor would recommend for internal fixing that involves placing metal rods, plates, and screws.

All these are a few fibrous dysplasia treatments which are performed to treat the disease and help the person lead a pain-free and a happy life.