Fibrous dysplasia: symptoms, causes, and how to treat

Definition of fibrous dysplasia

What is fibrous dysplasia?

Fibrous dysplasia or fibrous dysplasia is a bone disorder caused by the disruption or failure of the cells that make up the spine and are replaced by fibrous tissue or connective tissue.

Bone and fibrous tissue are not the same. The bone structure is responsible for supporting the body and protecting the vital organs in it, such as the lungs or the heart. Meanwhile, connective tissue acts as a connector between networks.

If the bone is replaced by connective tissue, of course this will cause problems. The areas of the bones most commonly affected by this disease are the skull, facial bones, thighbones, shins, and ribs.

Fibrous dysplasia can attack one or more bones in the body. However, this fibrous dysplasia does not spread from one healthy bone to another. That means, the affected bones were abnormal from the start, before a person was born.

Types of fibrous dysplasia

Disturbances in this movement system are known to be divided into 2 types, namely:

• Monostotic fibrous dysplasia (monostotic fibrous dysplasia): The most common type of bone disorder and affects only one bone.
• Polyostotic fibrous dysplasia (polyostotic fibrous dysplasia): A rare type and usually severe because it affects more than one bone. In fact, in certain cases it can attack the body's glands.

How common is this disease?

Fibrous dysplasia is a bone disorder that is quite rare, compared to other musculoskeletal disorders. Usually, this disease is detected in adolescents and young adults.

However, in some cases it can also be detected at the age of 10 years, especially if more than one bone is affected.

Signs & symptoms of fibrous dysplasia

This condition sometimes does not cause any symptoms or signs, especially if the condition is quite mild. Generally, symptoms will appear when the condition is severe.

Common symptoms that appear

Reporting from the Mayo Clinic, the following symptoms will appear:

• Bone pain that gets worse over time. Pain will be severe with activity and sometimes get better with rest.
• Swelling of the skin area near the affected bone. This usually occurs when more than one bone is affected.
• Bones change shape and size, different from the other pair.
• The legs become bent, causing difficulty walking.

Symptoms of fibrous dysplasia if it attacks the glands

If fibrous dysplasia attacks the glands, the symptoms that it cause are:

• Experiencing precocious puberty.
• There are light brown spots on the skin
• Decreased appetite, rapid weight gain or loss, anxiety easily, and excessive sweating.

When to see a doctor?

If you experience the symptoms mentioned above, check with your doctor. Especially if you experience bone pain for no apparent reason and it doesn't get better with home treatments.

Cause

What causes fibrous dysplasia?

The cause of this movement system disorder is not known with certainty. However, health experts believe there is a linkage of changes (mutations) in the GNAS1 gene.

This mutation occurs after the fertilization of the embryo so it is not inherited from the parents. This means that a person who has this gene will also not pass on an abnormal gene copy in the offspring.

The GNAS1 gene produces a protein called G-protein. In people with this bone disorder, the GNAS1 gene causes the overproduction of this protein. As a result, this causes the cyclic adenosine monophosphate (cAMP) molecule associated with osteoblasts to also increase.

Osteoblasts are new bone-forming cells. If the osteoblast level is high, the osteoclasts (bone-breaking cells) will try to compensate.

This leaves the skeletal progenitor cells including immature osteoblasts and fibrous tissue to have more space. Eventually, fibrous tissue grows to occupy the empty space that should be space for bone.

Risk factors for fibrous dysplasia

The cause of fibrous dysplasia is not known with certainty. Until now, various factors that can increase the risk of this disease are also still being studied more deeply by experts.

Complications of fibrous dysplasia

Severe fibrotic dysplasia can cause complications. Complications of fibrous dysplasia that may occur are:

• Broken bones: Areas of weakened bones can cause bones to bend and break easily.
• Arthritis (arthritis): If the bones of the legs or pelvis are deformed (change in shape and size), inflammation of the joints may develop and cause additional symptoms.
• Cancer: Although rare, this spinal disorder can lead to bone cells becoming abnormal and eventually cancer. This rare complication usually occurs in people who have previously had radiotherapy.

Diagnosis and treatment of fibrous dysplasia

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

In order to confirm the diagnosis of fibrous dysplasia, the doctor will ask you to undergo a series of medical tests. First, the doctor will perform a physical test, which is to examine your bones that are painful or swollen.

Then, you will undergo an X-ray imaging test to see an image of any bone condition that may have changed.

Further tests that can be done

In addition to these medical tests, you will also be recommended other tests, including:

• Bone scan. You will be injected with a radioactive material into your bloodstream. Areas that contain a lot of this material can be a sign of a problem with the bone.
• MRI tests and CT scans. This medical test produces 3D images to show bone deformities or broken bone conditions.
• Biopsy. This health test is done by surgically removing a small part of your problem bone. Then, the bone will be used as a sample to further observe the structure and arrangement of its cells in the laboratory.

What are the ways to treat fibrous dysplasia?

How to treat fibrous dysplasia will be tailored to the symptoms you are experiencing. Treatment for fibrous dysplasia that doctors may recommend is:

Take medicine

The doctor will prescribe a bisphosphonate drug, such as pamidronate or alendronate to prevent bone loss by reducing the activity of cells that break down bone. Apart from strengthening bones, this drug can also help relieve bone pain.

If these drugs are not effective in controlling symptoms, the doctor will prescribe another drug, namely zoledronic acid injections. In addition, the doctor will also provide vitamin D and calcium supplements along with other drugs.

Operation

Surgery is also a treatment for fibrous dysplasia. The goal is to correct bone deformities, different leg lengths, and to treat fractures that did not heal with previous treatment.

In addition, surgery is also performed to relieve pressure on the nerves due to abnormally growing bones. If there is a bone lesion, the doctor will perform a bone graft.

The bone can be removed from another part of the body and the doctor will insert a metal plate or screw to stabilize the bone graft.

Home remedies for fibrous dysplasia

Apart from taking medication or having surgery, children with the condition should also follow home remedies, namely wearing a supportive corset. The goal is to prevent fractures or spinal deformities (if fibrous dysplasia attacks the spine).

In addition, it is also important to fulfill nutrition through food by consuming bone strengthening foods. So, the intake of vitamin D and calcium is not only obtained from supplements.

Food choices that are rich in calcium, vitamin D, and other important nutrients for the bones of fibrous dysplasia patients are dairy products, fish, nuts, eggs, and various kinds of vegetables.

Prevention of fibrous dysplasia

Until now, health experts have not been able to prove a possible way to prevent fibrous dysplasia. However, to prevent complications, medical treatment and care is very necessary.