What is it?
Fibrodysplasia Ossificans Progressiva is a condition and disorder where the bones start to grow outside of the skeletal system, and spread into places like muscles and tissues all over the body.
Symptoms
Signs of this condition can show up in childhood. Some symptoms, as mentioned by Healthline can include:
Short malformed big toes
Joint or bone problems that don’t allow children to crawl
Malformed thumbs
Painful inflammation
Fever
Excessive bone formations from X-rays
Furthermore, while the condition has a different rate of progress for every person affected, the more the condition develops, the more symptoms such as stiffness, deformed spine, being unable to move, or even a lack of balance
Cause + Medical Explanation
Typically, there are two copies of the ACVR1 gene in a cell, and it is responsible for regulating the growth of bones and muscles in the course of one’s life. One way the gene controls the growth is with cell differentiation which is when unspecialized cells change to a specific cell. However, in FOP, there is a mutation in one of the copies of the ACR1 gene, which results in the function being disrupted. Specifically, the mutation alters the cell differentiation to bone formation. Therefore, whenever there is needed reparation in parts of the body like muscles or tissues for example, there will be bones forming and growing out of the ordinary, which the image below demonstrates.
To add on, this is a condition that occurs from birth. According to Benioff Children’s Hospital, this is an “autosomal dominant condition” so the child is able to get this condition from simply only one of the parents having it. Although, it is not common that this is passed on from parent to child, it typically occurs from the mutation that occurs spontaneously.
What are flare ups? How are these individuals affected?
This connects with the symptoms of the patient. As a result of the mutation causing the muscles and tissues of the body to change to bone, the affected individual with the condition will experience the symptoms previously mentioned, such as lots of pain, fever, joint stiffness, or inflammation. These episodes are known as flare-ups, and can last about 6-8 weeks.
Additionally, it is important to note that FOP is a rare condition, and according to IFOPA, an organization dedicated to helping people with this condition, estimate that it can affect about 2,500-3,000 people around the world. This would mean that about 1 in 2 million would have this condition. There is the likely possibility that these cases can be higher because many are often misdiagnosed for other conditions such as cancer.
There is currently research being done in order to develop effective treatments. As mentioned by the Benioff Children's Hospitals, there is currently a drug being investigated with the purpose to stop the growth of bones onto muscles and tissues.
Treatments
FOP is a permanent and progressive condition, and there are currently no cures or effective treatments. As of now, there are only medications, such as corticosteroids, to help with the symptoms that individuals with this condition experience, such as fever or inflammation.
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