The FOP
Fibrodysplasia Ossificans Progressiva
Imagine your skin turning into bone. Your guts hardening. And your joints immobilising. All this until you become a bone statue, similar to those renaissance marble statues, only not as ripped.
While a hyperbole, this could be a reality for those with FOP, otherwise known as Fibrodysplasia Ossificans Progressiva or ‘Stone Man Syndrome’(sounds like some iron man knock-off)
In this article we will look at what causes FOP, what are the symptoms and the possible treatment for FOP.
What is FOP
Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic condition that causes muscle and connective tissue to turn into bone. People with FOP are born with malformed big toes and experience episodes of bone growth that start from the neck and shoulders and move down to the rest of the body. Any injury or illness can trigger new bone formation, which can be painful and limit mobility.
FOP is caused by a mutation in the ACVR1 gene, which encodes a receptor for bone morphogenetic proteins (BMPs). This mutation causes the BMP signalling pathway to be overly active. BMP’s are a group of signalling proteins that were initially discovered for their ability to induce bone formation, BMPs are now known to play crucial roles in all organ systems.
Genetic testing can be used to diagnose FOP, though bone formations in incorrect/odd locations are also a symptom, with most usually where skeletal muscles, tendons etc would be in, as seen bellow.
Symptoms
The common symptoms of FOP are:
malformations of the big toe
spontaneous flare-ups of inflammation or soft tissue swelling
increased flare-ups after injury, viral illness, or immunisations
difficulty moving
frequent injury due to falling
Movement can become severely restricted as bone grows into joints.
The spine can become deformed or fused.
Limited mobility may cause balance and coordination problems that can lead to injury due to falling. Even a minor injury can cause more inflammation and bone growth.
Bone growth in the chest can restrict breathing, increasing the risk of respiratory infection. Any viral illness can trigger a flare-up.
Limited movement of the jaw can make it hard to eat, which can lead to malnutrition and weight loss. Talking can also be difficult.
About half of people with FOP experience hearing impairment.
Poor blood flow can lead to pooling of the blood in the arms or legs, causing visible swelling.
The odd bone formations can be detected using x-ray scans, and the diagnosis can be confirmed using genetic testing. That said, according to healthline, the misdiagnosis rate can be as high as 80%, with common misdiagnoses being cancer, aggressive juvenile fibromatosis, and fibrous dysplasia.
(source: healthline)
Treatments
Unfortunately, there is no way to stop or slow the symptoms of FOP. However, there are some ways of treating specific issues and relieve pains, such as:
corticosteroids to reduce pain and swelling during flare-ups
nonsteroidal anti-inflammatory drugs (NSAIDs) between flare-ups
assistive devices such as braces or special shoes to help with walking
occupational therapy
Conclusion
FOP, while an extremely rare condition, is an extremely painful one too. Unfortunately, while there are some ways to ease pain, there are no valid treatments, and this can be linked to the fact that it is not very well known, with many doctors having never heard of FOP.
Progression for cures is slow, as a result of a lack of research funding to find treatments for this condition.
Alas, there are somethings that you can do, such as familiarizing yourself with organizations that raise awareness for FOP and other similar rare conditons, such as:
Other than that, you can also inform others and raise awareness about FOP, by sharing this article :)