Fibrous Dysplasia

Fibrous Dysplasia

Fibrous Dysplasia is a chronic skeletal disease found in the human body where scar-like tissue starts to grow in place of healthy bones. It is a non-cancerous condition; however, the growth of this fibrous tissue can cause the bones to become weak and feeble, even leading to permanent deformity in extreme cases. Even though the condition is extremely rare (affecting less than 1% of the global population), it can concern any bone of the body. If the condition is found affecting a single bone, it is referred to as Monostotic Fibrous Dysplasia). However, In severe conditions, multiple bones (Polyostotic Fibrous Dysplasia) are impacted at once, thus making it difficult for the human skeleton to hold its posture.

There are clear and distinctive signals that help medical professionals to diagnose the disease:

1. Deformity or stunted growth of bones
2. Reduced strength in bones
3. Pangs of pain
4. Swelling at the affected site
5. Curvature in spine
6. Limping
7. Increased fractures

Even when Fibrous Dysplasia is a genetic anomaly, it has no fixed cause. Following are the abnormalities that are associated with this disorder:

1. Early onset of puberty
2. Brown and pale spots on the skin
3. Increased hormonal activity

 Fibrous Dysplasia is associated with a genetic mutation that is commonly found in a certain variety of cells. The role of these cells is linked to bone formation and providing a healthy structure to the human body. As a result, there are no specific causes of this disease. It is inherited at birth and causes the formation of weak tissues that are prone to get ruptured easily.

The diagnosis begins with the first physical impression of a medical professional in which the affected area is examined over the skin. In this stage, the doctor also enquires about the patient's medical history to devise the right route for the procedure.

After getting the essential details about the patient's history and performing a physical check, certain other imaging techniques are used. They include:

1. X-rays: An X-ray is an imaging technique that provides explicit images of internal organs, bones, and tissues. A report of the scan is added alongside the film of images.
2. CT scans & MRI: These are advanced imaging techniques that help the doctor to conduct an in-depth examination of the affected bone. In most cases, an X-ray is sufficient; however, a CT scan provides information about the strength and quality of the bone that may be necessary for an excellent prognosis.
3. Laboratory Tests: Blood and urine tests are required to ascertain the increasing levels of the enzyme alkaline phosphatase. These extreme levels of production happen due to the steady growth of Fibrous Dysplasia lesions in the patient's body.
4. Bone Scan: A bone scan may be necessary to find active lesions throughout the patient's body. In this procedure, a tiny amount of radioactive dye is injected into the body through an IV. The ink then shows the hotspots or the area of maximum lesions.
5. Biopsy: A biopsy is a standard procedure in which a small chunk of the tissue from the affected region is extracted from the body. This tissue is then further studied under a microscope to find out the properties of the cells to determine if there are any extreme abnormalities.

The treatment of Fibrous Dysplasia is determined by a medical professional after ascertaining the below-mentioned pointers:

1. The age and medical history of the patient
2. The intensity of the disease
3. The effects of medication and procedure on the patient
4. The preference of the patient 

Once all these things are determined, the healthcare provider can undertake various procedures. The treatment can either be surgical or non-surgical.

Non-Surgical Options

1. Observation: If the growth of lesions in the patient's body stops along with the fractures slowly getting reduced, the doctor may opt to monitor the patient to avoid surgery. During this time, the doctor may conduct repeated scans and tests to be sure.
2. Medications: The patient may have to take a mix of prescribed medicines through both oral and IV processes. The most prescribed salt for this condition is Bisphosphonates, which cease the activity of the cells that are involved in dissolving bones.
3. Bracing: The medical expert may ask the patient to start using a brace to protect the weakened bones physically. However, bracing is not a cure to the problem and is entirely ineffective if there are deformities in the bone structure.
4. Surgical Options: Surgical treatment is often advisable in the case of Fibrous Dysplasia since the patient's bone structure is at risk. There are several things that a doctor checks before prescribing surgery to the patient. These include:
   1. Presence of lesions that were left untreated through non-surgical procedures
   2. Evident cracks in the bones that can lead to fractures in the near future
   3. Increased levels of physical deformity
   4. Lesions that have the potency to turn cancerous

Post ascertaining these checks, the doctor may again evaluate the patient's medical history to finalise the mode of surgery. These include:

1. Curettage: It is the most popular medium to treat Fibrous Dysplasia. In this, the tumour is removed from the bone by continuous scraping throughout the affected region. This is usually the first step in the surgical procedure and can be followed by more steps according to the intensity of the condition.
2. Bone Graft: In order to make sure that the scraped bone is stabilised, the doctor may advise the patient to opt for a bone graft in the cavity space. The graft is either taken from an external donor or is acquired from a different bone in the patient's body. In some cases, the doctor can also present the option of using synthetic material to create the graft instead of using an actual bone.
3. Internal Fixation: Another prominent method to fix Fibrous Dysplasia is the use of metal rods, plates and screws to provide strength and structure to the affected bones. These rods can also act as a preventive measure to avoid future fractures in weakened regions.

The origin of Fibrous Dysplasia is still unclear amongst medical professionals; however, its risks have been clearly defined. Following are the pointers that should be kept in mind:

1. Prolonging the necessary treatment can result in unbearable pain and permanent skeletal deformity
2. Bone fractures have become a common acquaintance
3. The condition can turn cancerous

Since common wear and tear in the body of a child is not an alarming enough situation, most adults ignore the early signs of this condition. Here are some of the signs that show disease progression and should reflect the need for a medical expert's consultation and supervision:

1. Repeated cycles of pain and swelling
   1. Fibrous Dysplasia causes the affected bone region to expand and weaken as the fibrous tissue keeps on growing inside. This causes excruciating pain and irregular swelling, especially if the condition is present in the bones that bear the body's weight.
   2. In the initial stages, the pain intensity is manageable by the patient. However, this intensity keeps on rising with increased physical strain and decreases if the body is getting enough time to rest and relax.
2. Repeated fractures in the affected areas
   1. A fibrous bone is very weak when compared to a normal bone that has adequate minerals and calcium. As a result, it is extremely prone to fractures even without a solid strain on the bone. In fibrous bones, the fractures can also happen suddenly without any prior pain or symptom.
3. Loss of vision and hearing 
   1. If there are unprecedented bone extensions in the body post the occurrence of fractures, Fibrous Dysplasia can be the disease at play. When this condition occurs in the facial bones of a human body, the curvature and extensions can lead to temporary and even permanent loss of vision and hearing.
   2. Note: When the condition occurs in weight-bearing bones, there are pronounced curvatures that can cause the patient to limp while walking.
4. Pigmented spots and increased hormonal activity
   1. Another important symptom of Fibrous Dysplasia that should not be overlooked is the increased hormonal activity that can transpire in affected children.
   2. This symptom is more commonly found in female patients due to the increased activity in the ovaries.

Other hormonal conditions include:

1. Hyperactivity in the thyroid gland resulting in severe anxiety and changes in physical appearance
2. Irregular pigmented spots (cafè au lait) on the body
3. Hyperactivity in the adrenal gland resulting in obesity