Today we are going to talk about a strange and very rare condition. Imagine, what if the muscles in your body, that is, the flesh, gradually turned into bones, that is, bones? It is amazing to hear, isn't it? This condition is called Fibrodysplasia Ossificans Progressiva, which doctors call FOP (Fibrodysplasia Ossificans Progressiva) . This is really very complex and has a lot of impact. So let's talk about it simply, in a way that you can understand.
What is FOP? Simply put...
FOP (Fibrodysplasia Ossificans Progressiva) is a genetic condition . What happens is that the muscles and connective tissues in our body, such as tendons and ligaments, gradually turn into bone. The important thing is that this new bone is formed *outside* of our skeleton. It's like a second skeleton growing inside the body.
This abnormal bone formation gradually limits the range of motion of the body. Over time, it can become difficult to walk, run, or jump, and it can also make it difficult to move the limbs. These symptoms usually begin in childhood . They first appear in areas such as the neck and shoulders, and then spread to the lower body.
This condition first came to the attention of doctors in the 17th and 18th centuries. Later, it was also called "myositis ossificans progressiva" (muscle turns progressively to bone). However, later research, especially that of Dr. Victor Maciusik of Johns Hopkins University, led to the name Fibrodysplasia Ossificans Progressiva (Fibrodysplasia Ossificans Progressiva) , as it affects not only muscles but also soft tissues. It was not until 2006 that the specific gene mutation that causes it was discovered.
Who gets this condition? How common is it?
FOP is a very rare disease . It is estimated that this condition affects about one in two million people worldwide. This means that in a country like Sri Lanka, there are fewer than the fingers on one hand who can count these patients.
Anyone can develop this condition. This is because it is often caused by a new genetic mutation. This means that it is caused by a random change that occurs when the cells of the embryo divide, rather than being inherited from the mother or father. We cannot say for sure that genetic mutations happen this way. Sometimes, things like smoking and exposure to chemicals can increase the risk of genetic mutations in general. But in the case of FOP, it is often a random event. If you are expecting a child, it is a good idea to talk to your doctor about getting genetic counseling to learn about genetic diseases.
How does FOP affect the body?
A person with FOP gradually loses muscle and connective tissue, limiting their range of motion . The condition begins in the neck and shoulders during childhood and gradually spreads down the body.
The important thing is that any kind of injury (trauma) to the body can trigger this disease, which means that new bone formation is accelerated. This injury does not have to be anything major. It can be triggered by a minor fall, surgery, or an illness like a cold or flu. At this point, the muscles in the affected area become swollen and inflamed (myositis). This swelling can last from a few days to months.
Think about it, if a young child falls while playing or gets a fever, they usually recover in a few days. But for a child with FOP, even something as small as that can cause that new bone formation to start, a 'flare-up' .
Children may have difficulty eating and speaking. This is because new bone growth in the jaw area prevents them from opening their mouth properly. This can also lead to malnutrition . If new bone growth occurs around the ribs in the chest, it can make it difficult for the lungs to inflate properly, making it difficult to breathe .
What causes FOP?
The main cause of FOP is a mutation in the gene ACVR1 . This ACVR1 gene tells our body to make type 1 receptors for a protein called bone morphogenic protein (BMP) found in muscles and cartilage. Simply put, this BMP controls how and when bones and muscles grow.
When a mutation occurs in the ACVR1 gene, this receptor becomes like a light switch that is always "on." That is, it remains on even when it should be off, continuing to produce BMP proteins. This is what causes the symptoms of FOP.
FOP is an autosomal dominant condition. This means that a child can inherit the disease even if only one parent has the altered gene. If either parent has the gene that causes FOP, the child has a 50% chance of inheriting it.
However, most of the time, FOP is caused by a new mutation (`de novo mutation`) in the `ACVR1` gene. This means that this gene mutation occurs randomly, without anyone in the family having had the disease before.
What are the symptoms of FOP?
The main feature of FOP is that things like muscles, tendons, and ligaments gradually turn into bone. Doctors call this `heterotopic ossification` . This process starts in childhood in the neck and shoulder area. Then, over time, it spreads to other parts of the body. For some people, this bone formation can be very fast, for others it can be very slow. It varies from person to person.
Symptoms occur with the aforementioned 'flare-ups' . That is, with the body's response to something harmful to the body (such as an injury, surgery, fever). During this time, the affected area becomes swollen and painful. Because the `bone morphogenic protein type 1` receptor continues to make proteins, new bone forms on top of the muscles and tendons. Once the new bone forms, the swelling subsides. This can last from a few days to a month.
Key feature: Changes in the big toe
One of the most common signs of FOP, which can be seen at birth , is an abnormality in the big toe . It may be shorter than normal, sometimes curved inward, and may be positioned above the second toe. This abnormality may be noticeable before other symptoms appear. About 50% of people with FOP also have similar abnormalities in their big toe.
Other symptoms:
Some other symptoms of FOP include:
- New bone formation over muscles, ligaments, and connective tissue.
- Decreased mobility (walking on your butt instead of crawling, joint stiffness, joint locking).
- Difficulty eating and talking.
- Hearing impairment.
- Unusual shape of the big toe.
- Complete inability to move over time.
- Some areas of the body become red, purple, painful, feel hot to the touch, and swell like a tumor.
- Curvature of the spine (`Scoliosis` or `Kyphosis`).
- Swelling of the soft tissues of the neck, shoulders, and back.
As the disease progresses, a person with FOP may lose all ability to move . The new bone growth can press on nerves, causing pain and stiffness. At this stage, there is an increased risk of respiratory infections and heart failure . In severe cases, some people may also have problems with thinking and learning .
How is FOP diagnosed?
Diagnosis of FOP begins with a physical examination by a doctor . Your symptoms will be noted and your medical history will be reviewed. In addition, a genetic test , which involves taking a blood sample, will be done to check for the genetic mutation that causes the disease. X-rays can also be used to check for new bone growth on the muscles and connective tissue.
However, diagnosing FOP can be challenging for doctors. Because it is so rare, many doctors rarely see a patient with it in their lifetime. As a result, FOP symptoms can sometimes be mistaken for other conditions, such as cancer, juvenile fibromatosis (a growth of soft tissue or skin lesions), or fibrous dysplasia (a type of bone growth).
Very important: Even if a lump in FOP looks like a tumor, it is not a good idea to take a piece of it for testing (a `biopsy`) . Doing so can make the disease worse and increase the risk of new bone formation (flare-ups). A biopsy of an FOP lump can sometimes look like a cancerous tumor.
Therefore, two of the main factors for accurately diagnosing FOP are the abnormality in the big toes and the soft tissue swelling that occurs in various parts of the body.
What are the treatments for FOP?
There is no cure for FOP. However, treatments are aimed at controlling symptoms, especially the flare-ups that occur when bone formation begins. Research and clinical trials are ongoing. Treatment options may vary from person to person, depending on the specific symptoms a person has.
Some of the treatments that can be used for FOP are:
- Obtain social, psychological, and health support and genetic counseling .
- Participating in occupational therapy to help with physical needs.
- Taking antibiotics (as prescribed by a doctor) to prevent respiratory tract infections.
- Use of medications (e.g. corticosteroids , nonsteroidal anti-inflammatory medication , muscle relaxants) to reduce swelling and pain during flare-ups.
- Use of mobility aids (e.g., a wheelchair).
- Sometimes wearing a brace.
How to reduce flare-ups?
To prevent flare-ups of FOP symptoms, it is important to avoid muscle and tissue damage . These flare-ups occur when the body experiences a stressful event (surgery, injury, illness). You can do the following to reduce your risk:
- Avoid situations where you could get injured, fall, or break a bone. You should always think about safety.
- When getting vaccines, get injections into the fatty tissue under the skin (subcutaneous injections) instead of intramuscular injections. Talk to your doctor about this.
- Avoid biopsy or tests that remove tissue for diagnostic purposes. Ask your doctor about alternative tests.
- During dental treatments, avoid excessive traction on the jaw area and local anesthetic injections as much as possible. The dentist should be informed about this.
- Take steps to protect yourself from viral diseases like the flu and cold.
Can FOP be completely prevented?
Because FOP is caused by a genetic mutation, it cannot be completely prevented . To understand the risk of a child having a genetic disease, you can talk to your doctor about genetic testing.
What can you expect when living with FOP?
FOP is a lifelong, incurable condition . The prognosis is poor because of the severe symptoms of the disease, especially respiratory infections and the progressive loss of mobility. Life expectancy for someone with FOP is usually reduced to young adulthood. By the age of 30, many people are completely immobile . Respiratory infections are the leading cause of death in FOP patients.
However, research and clinical trials continue to find new treatments, and these offer hope.
How do you take care of yourself?
After you are diagnosed with FOP, you will need to work closely with your doctor to develop a treatment plan that is right for you and your symptoms. A genetic counselor can help you understand the diagnosis and provide emotional support for you and your family. Flare-ups can be painful and uncomfortable. However, your doctor can suggest ways to manage these symptoms.
When should you see a doctor?
You should see a doctor if:
- If there is severe pain .
- If the swelling does not go down.
- If your mobility is limited, your joints are stiff, or your joints are stuck.
- If you can't eat.
IMPORTANT: If you are having difficulty breathing , call 1990 immediately or go to the nearest emergency room.
Questions to ask your doctor
When you receive a rare diagnosis like this, you may wonder, "What do I do now?" Your doctor will constantly monitor your health and provide the necessary support.
You can ask your doctor questions like:
- What mobility devices and tools are available to help me perform my daily tasks?
- What medications do you recommend to reduce swelling and inflammation?
- How can I manage the pain that comes with my symptoms?
They may also refer you to a genetic counselor or occupational therapist. They can help you understand your diagnosis, minimize flare-ups, and live a comfortable life.
Summary: Let's remember!
FOP is a very complex and challenging condition. However, it is important to be aware of it, recognize the symptoms early, and seek proper medical advice and support.
- FOP is a rare genetic disease in which muscle and connective tissue turn into bone.
- A key feature is the abnormality of the big toe present at birth.
- Any damage to the body (injury, illness) can cause 'flare-ups', so it's very important to be careful.
- Biopsy tests are not appropriate for these patients.
- Although there is no cure, there are treatments to control symptoms and improve quality of life. Research is ongoing.
- If you or someone you know has these symptoms, seek medical advice immediately.
I hope this information is helpful to you. Remember, you are not alone. May you find the strength to face this challenge with the right information and support!
` FOP, Fibrodysplasia Ossificans Progressiva, Genetic Diseases, Bones, Muscles, Rare Diseases, ACVR1
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