Role Of Genetics In The Mutation And The Formation Of FOP Bone Tissues

With FOP, there is a mutation in the gene which encodes the activin receptor type 1and it tells the body to make extra bone.  The ACVR1 gene helps control something called bone morphogenetic proteins or BMP’s. Extra-skeletal bone formation in those with FOP can also be caused by soft tissue injury, the disease causes an alteration in the signals that regular normal bone formation.  In people with FOP, the gene is active without bone morphogenetic proteins and it causes over activity and it results in hyper stimulation and extra bones forming.

How is fibrodysplasia ossificans progressiva diagnosed?

In most cases of FOP, an accurate diagnosis can be made by looking at the patient’s characteristic malformation of the big toe.  In addition, a doctor may notice rapidly changes in swellings on the neck, back or head. 

The difficulty in diagnosing FOP and error rates have caused undue pain and suffering for many people all over the world.  Misdiagnosing FOP can lead a person to unneeded invasive medical procedures like a biopsy, which can result in permanent complications and loss of mobility.  Three of the most commonly misdiagnosed conditions for fibrodysplasia ossificans progressiva include aggressive juvenile fibromatosis, progressive osseous heteroplasia and cancer.

What treatment options are available for fibrodysplasia ossificans progressiva?

FOP is not curable and because the disease is so rare, treating it can be very challenging for physicians.  FOP bone cannot be disturbed because it can result in making the disease much worse.  If a doctor were to attempt surgical removal of the FOP bone tissue, it could cause a flare-up of the condition and result in the bone growing back and possibly making even more bone than before. 

Doctors generally use medications to treat the symptoms of FOP.  Because there are not many cases of FOP, it is hard to gather a group large enough to host research trials to study the disease.  The most common medications used to treat the symptoms of FOP include the following:

• Aminobiphosphates:  This type of drug suppresses the formation of blood vessels, which is what bone tissue requires for growth.  Aminobiphosphates also limit bone resorption through shortening the life span of osteoclasts. 
• Corticosteroids: The use of corticosteroids like Prednisone during a flare-up can help decrease inflammation and swelling, thus shortening the duration of the inflammatory process.
• Thalidomide: Thalidomide is an anti-angiogenic drug which helps to limit the immune system response and function during an FOP flare-up. 

See Also: Fahr's Syndrome Or Brain Stones, A Rare Neurological Disease

Prognosis for FOP

Medical science needs to fully understand the role the inflammatory process plays in triggering flare-ups of FOP.

Ultimately, fibrodysplasia ossificans progressiva is fatal, which is why medical science must develop new treatment options and study the disease more aggressively.