FOP is an ultra-rare genetic disorder that causes bones to form where they should not; outside of the skeleton and in the soft and connective tissues such as the muscles, tendons, and ligaments.
FOP is ultra-rare, as only one or two per a million (1–2:1,000,000) people have the condition. Most healthcare professionals may not have seen a person living with FOP before, in their practice. For this reason, initial misdiagnosis is usually common.
Fibrodysplasia ossificans progressiva is an ultra-rare genetic disorder, as mentioned earlier. Most healthcare professionals have not seen its patients in their practice, as previously stated. This accounts for the misrepresentation associated with the FOP disease.
A survey was conducted of people living with FOP and their caregivers. Of the 138 people who responded, nearly 9 out of 10 fibrodysplasia ossificans progressive cases reported and treated for FOP, may not be fibrodysplasia ossificans progressive after all.
The primary tool for diagnosing fibrodysplasia ossificans progressiva disorder is by conducting an X-ray. While bones appear solid in an X-ray, a fibrodysplasia lesion has a distinct appearance often described as “ground glass.”
An X-ray can also help assist the doctor in determining how much of the bone is affected and whether there is a deformity in the bone. Other tests may be used to confirm a diagnosis or rule out other disorders.
These tests include the below:
CT and MRI can produce images (2D or 3D) of bones, which help doctors know and characterize the quality of the bone or fracture associated with the condition.
It is a nuclear imaging test. With the help of a small amount of radioactive tracer injected into your bloodstream, a specialized camera can identify multiple fibrodysplasia lesions.
With a hollow needle, a small piece of the affected bone is removed for microscopic analysis. The structure and arrangement of cells can confirm a fibrodysplasia diagnosis.
People with mild fibrodysplasia and have no symptoms have a low risk of developing deformity or bone fracture. Your doctor will likely monitor your condition with periodic x-rays.
Medications for osteoporosis (a disease, occurring especially in women following menopause, in which the bones become extremely porous and are subject to fracture) help prevent bone loss by decreasing the activity of cells that normally dissolve bones. For example, bisphosphonates are also used to treat Paget’s disease by restricting bone loss.
This, if recommended, will:
During surgery, the bone lesion is removed and replaced with a bone graft (bone from another part of your body, bone tissue from a donor, or synthetic material). In some cases, a fibrodysplasia lesion may redevelop. The surgeon may also insert metal plates, rods, or screws to prevent broken bones, or to stabilize a bone or bone graft.
After surgery, regular follow-up visits are important, every 2–3 weeks. Keep all your doctor’s appointments. Report any adverse development in your health to your doctor in, very timely. Keep to your doctor’s prescriptions. Take healthy diets.
Getting an early diagnosis of FOP is important to its patients, as it can make a big difference in how these patients are managed. Early detection of fibrodysplasia ossificans progressiva helps in early intervention and treatment.
FOP can grow worse following wrong treatments. Getting appropriate care according to current FOP management guidelines. Care should be taken to avoid anything that might cause trauma and further complications. It is important that everyone involved in your healthcare be aware of FOP to check any form of irrelevant medical therapy. These include your dentist, as well as your family doctor.
Overstretching of the mouth or receiving a numbing injection for routine dental procedures can cause extra bones to form in the jaw area if due care is not taken. A routine injection given into a muscle can consequently result in heterotopic ossification.
Other complications of the misdiagnosing of fibrodysplasia ossificans progressive include all of the below:
- Correct a deformity.
- Correct limb length differences.
- Prevent fractures.
- Repair a fracture that doesn’t heal with casting.
- Relieve pressure on a nerve, especially in your skull or face.
A survey has found out that as a result of FOP misdiagnosis:
- Time lost on the mismanagement of FOP, which could have been proven effective if used on other patients.
- A huge amount of money was spent on wrong therapies, which could have been well invested in the patient’s health for good results.
- The delay in applying the right treatment, which can lead to a worsening health condition or even death.
SOME MEDICAL CONDITIONS MISDIAGNOSED AS FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
The condition of turned-in big toes at birth is a characteristic of FOP, but it is frequently misdiagnosed, though it is a vital early sign of the disease.
We may mistake the soft tissue swelling or unusual hardened lumps or bumps that follow an FOP flare-up for tumors. This can lead to procedures that can make the FOP condition worse. These include subjecting the patient to biopsy or surgery to remove a suspected lump.
This is like a fibrodysplasia ossificans progressive. It is an ultra-rare genetic disorder. But unlike FOP, it involves connective tissue cells called fibroblasts, which typically grow on the head and neck and causes pain and eventual disability.
This is a chronic inflammatory disease that typically affects the joints of the spine. It can cause severe chronic pains. In prolonged cases, the joints of the spine may fuse and cause a curve in the spine and make the affected person bend over.
MORTALITY RATE OF THE PATIENTS WITH FIBRODYSLASIA OSSIFICANS PROGRESSIVA
Serious and intensive research work is going on concerning the ultra-rare dehumanizing disease. So far, a cure has not yet been discovered. However, some medications reduce the symptoms.
During the past ten years period of December 2008 to December 2018, nine patients with the fibrodysplasia ossificans progressiva disorder (3 males and 3 females) were recorded dead, while 56 patients (27 males and 29 females) were on survival. Hence, the total mortality rate of the disorder was 13.8% (9/65 cases).
- 67% of patients had unnecessary biopsies.
- 68% of patients received inappropriate therapies.
- 49% of patients had permanent complications such as the loss of mobility, resulting from invasive medical interventions that caused post-traumatic heterotopic ossification (HO).
The most classic first sign of FOP is having shortened and turned-in big toes at birth.
Let us take a quick look at the detailed signals and symptoms of fibrodysplasia ossificans progressiva. They include and are not limited to the ort and turned-in big toes at birth.
- Fibrodysplasia ossificans progressive (FOP) flare-ups.
- Extra bone formation at specific locations of the body.
- Swellings accompanied by redness or feeling of warmth.
- Episodes of pain.
- Reduced movement.
- Loss of appetite.
- Stiff neck (in babies).
- Shortened thumbs.
- Skeletal malfunctions of the neck area of the spine, hips, or lungs.
- Loss of hearing.
- Hard lumps or bumps.
The diagnosis of FOP is by physical observation or examination.
FOP is caused by a mutation in a gene that is involved in the normal formation of the bones. A team of researchers has found that FOP is caused by a mutation of a gene on chromosome 2 (which they call 2q23–24) for a receptor in the BMP signaling pathway called ACVR1.
Bone morphogenetic proteins (BMPs) are regulatory proteins that are important in the embryonic skeletal formation and the postnatal repair of the skeleton. However, more research work is needed concerning gene mutation that causes FOP.
Who discovered the fibrodysplasia ossificans progressiva?
The disorder itself translates into: “soft connective tissue that progressively turns to bone.” It was officially modified by late Dr. Victor Mekusick of Johns Hopkins University School of Medicine. He is considered the father of medical genetics.
What is the life expectancy of a person with FOP?
The median life expectancy is about 53 years. FOP, for decades, was a topic of medical curiosity that lifted people at a fix. It was a disease without cure or treatment, or even biological research or exploration. Today, more intense research is stitinuing.
What is Stone Man Syndrome?
Fibrodysplasia ossificans progressiva is considered another name or term for Stone Man Syndrome. It has typically been associated with the hardening and stiffening of connective tissues and ligaments of the human body, turning it into somewhat like a stone. It is associated with the progressive ossification of muscles.
Can blood turn into stone?
In a rare disease like fibrodysplasia ossificans, a mutation in the ALK2 gene results in the formation of bones in the body's soft tissues which include the muscles, ligaments, and tendons, forming a second skeleton outside your normal one.
Is there a cure for FOP?
Currently, no cure for the fibrodysplasia ossificans disorder has been found. Courses of high-dose corticosteroids at the start of flare-ups can reduce some of the symptoms of the seriously dilapidating condition.