Fibrodysplasia Ossificans Progressiva: Treatment, Cost and Side Effects

Fibrodysplasia Ossificans Progressiva (FOP) is a rare disorder that is characterized by ossification or bone development and growth. The bone growth and development occurs in place of places of the body where bone is normally present (heterotropic or extra-skeletal ossification). Generally muscles and connective tissue such as ligaments and tendons undergo metamorphosis and turn into bones that cause low mobility or movement. As a result the joints become affected and you experience difficulty in eating and speaking due to inability to open mouth. You may also experience breathing difficulty as a result of extra bone formation around the rib cage.

FOP is caused due to a mutation in the gene ACVR1. The ACVR1 gene provides instructions for producing a certain type of protein that is found in skeletal muscle and cartilage and helps in controlling the growth and development of bones and muscles. In order to understand the exact mechanism behind the causation, a brief explanation on genes and chromosomes is needed. What are genes? Genes are on the chromosomes that are inherited from the father and the mother. What are chromosomes? Chromosomes carry the genetic information of each individual. Human body cells have 46 chromosomes and pairs of chromosomes are numbered from 1 to 22. There are two sex chromosomes X and Y. Males have one X chromosome and one Y chromosome and females have two X chromosomes.

FOP is an autosomal dominant disorder meaning that is inherited either from the mother or the father. This means a single copy of an affected or abnormal gene is enough for the appearance or expression of the gene. However, FOP can also occur due to new mutation (gene change) in an individual having no history of the disease or condition.

It is difficult to diagnose FOP due to its varied symptoms which can be progressive in nature. Doctors usually do a careful physical examination along with a careful scrutiny of medical history or family illness. It is advisable not to go for biopsy tests as it can lead increased ossification or formation extra-skeletal bones. However, your doctor might also measure levels of alkaline phosphatase and bone-specific alkaline phosphatase in the body.

There is no standard treatment or cure for the condition and measures are taken to treat or tackle the symptoms associated with the condition. Doctors advise a brief course of corticosteroids like Prednisone to control flare-ups. It should be given within 24 hours of the flare-up and thereby helps in reducing intense inflammation and tissue swelling which are early symptoms of the disease. Other drugs like muscle relaxants, mast cell inhibitors and aminobisphosphanates can also be given to deal with certain symptoms but has to administer closely by doctors or medical professionals. However, doctors advise on avoiding surgery to treat the condition as it is risky and can lead to new bone formation.

Additionally you may require genetic counseling which provides information and support to patient and their families suffering from genetic disorders. Therefore, genetic counseling will include special social, educational and medical services to treat the symptoms and provides support.

Fibrodysplasia ossificans progressiva is rare disease that is noticeable during early childhood. The extra-skeletal bone formation usually begins in neck and shoulders and proceeds downwards to the limbs. A person suffering from the condition often become malnourished and may experience speaking and eating difficulties.

In most cases, people having FOP are born with big malformed toes and short thumbs along with other skeletal abnormalities. Moreover, trauma such as fall or invasive medical procedures may trigger episodes of muscle swelling and inflammation followed by intense ossification or extra-skeletal bone formation. Illness like influenza may also cause flare-ups. Therefore, if you experience any of the above symptoms, then you are eligible for FOP treatment.

If you have suffered from a fracture or joint dislocation, then you are not eligible for the treatment for FOP.

As there are cure or treatment of FOP, side effects from the treatment is also minimal. However, corticosteroids drugs which are given to treat symptoms may cause some side effects if used on a long term basis. Side effects may include osteoporosis (fragile bone), hypertension (high blood pressure), diabetes, weight gain, increased vulnerability to infection, cataracts and glaucoma, thinning of the skin and bruising easily.

If your doctor prescribe you muscle relaxants, then you may expect side effects like dry mouth or throat, blurred vision, drowsiness, dizziness and tired feeling, loss of appetite, stomach pain and nausea, diarrhea, constipation and gas and muscle weakness. Therefore, side effects are less severe compared to corticosteroids.

As there are no definite cure or treatment of FOP, post-treatment guidelines will be lifelong and palliative in nature. Affected individual will need occupational therapy that helps in physical mobility. Special shoes, braces and other devices may be needed to assist you in your walking. Other kind of support such as feeding or external breathing mask may also be required to help you lead smoother life.

Recovery is usually lifelong for FOP as there is proper treatment or cure for the disease. Treatment is generally supportive in nature.

Treatment cost for FOP is usually not high as there is no proper cure for the disease. Treatment usually consist of giving drugs for shorter period of time the cost of which begins at Rs.500 and can go up to Rs.2000.

The results of the treatment is not permanent meaning the disease is a rare genetic disorder that requires lifelong care and support.Therefore, people live with FOP all their life and the life expentancy is usually between 30 to 40 years.

There are no known alternative treatments of FOP.