FOP or Fibrodysplasia Ossificans Progressiva. Different right?

Do you know what FOP is called? The second name for FOP is ‘STONEMAN DISEASE.’ FOP or progressive myositis ossificans comes in congenital and genetic disorders, musculoskeletal diseases, or skin diseases. 

Counted as one of the rarest diseases diagnosed globally. This condition still has no cure. This is a question mark for many researchers or scientists that this disease has the ability to change one organ system into another organ system. FOP is generally a genetic disorder in which the soft tissues start transforming into bone or skeletal muscles. This condition affects and restricts the movement of the body. This condition starts in early childhood. FOP is noticed in the neck, shoulders and moves downwards to the limbs. 

Symptoms of FOP

Symptoms start to show in the start and early childhood. The main and noticeable symptom of FOP is the affected children are born with abnormal big toes. This is the main point to distinguish this disorder. Symptoms differ from person to person. Some other symptoms are: 

  • Loss of movement of FOP affected sides
  • Muscle swelling 
  • Painful flare-ups 
  • Inflammation 
  • Viral illness like cold or flu
  • Malformed big toes from birth 
  • Restricted movement of muscles and bones. 
  • Usually short thumbs 
  • Affected persons grow up with multiple skeleton abnormalities.
  • Missing joints or lumps in joints

Not all affected people have the same symptoms. But systems vary with the age and stage of the affected person. And also how the disease developed. 

Morphologically, the symptoms that show up in 80 to 90% of patients are described as:

  • Abnormal vertebral morphology
  • Abnormality in metatarsal bones
  • Abnormality in ligament tissue and muscle tissue 
  • Limit in motion and mobility of limbs and other affected organs
FOP or Fibrodysplasia Ossificans Progressiva. Different right? 2 - Daily Medicos
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What is the least life expectancy time?

For people affected with FOP, the least life expectancy time is 40 to 55 years. But they get bedridden at the age of 20. Many people do not even make it to 55. Because FOP causes respiratory problems as well due to bone or lump formation around the rib cage, which makes the person difficult to breathe and also as time is passing each of the affected muscles is turning into bone. When FOP affected the jaw or mandible bones, they limit the speech, mouth opening, or eating movements. 

Different webpages have shown different age of life expectancy in FOP patients. 40, 50, 60, and even 62 are also recorded in a patient who had turned into a living statue when he died. But early immobility and cardiorespiratory failure make it difficult to live and make the death earlier. 

How is FOP caused?

How FOP is caused is the most commonly asked and clicked question. The cause of FOP is always genetic, which means a mutation in the ACVR1 gene causes it.  

This mutation affects and damages the repair mechanism and skeletal system of the body. This is caused by an autosomal dominant allele and is penetrated from parents to children by gametes’ mutation. 

 FOP and genetics

FOP is directly related to genetics, and it is basically a genetic disorder due to a mutation in genes. This condition develops 1 in 1,600,000 newly born children. Worldwide 800 people have known FOP. This is a dominant disorder, so there is a 50% chance of disease if one parent is affected, and one is non-affected. Sometimes there is a possibility that:

  1. Both affected parents can produce an unaffected child 
  2. Both unaffected parents produce an affected child.

Both conditions can develop because of the mutation in the gene. 

FOP or Fibrodysplasia Ossificans Progressiva. Different right? 3 - Daily Medicos
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Why the ACVR1 gene cause FOP?

The ACVR1 gene has the nature of encoding the bone morphogenic protein receptor. This gene is responsible for bone development and growth, which causes FOP after mutation. 

Most of the cases of FOP are diagnosed by family history, and many of them develop FOP inherited by parents. 

Diagnosis

The main distinguishing feature of an FOP affected person is a malformed big toe. Other examination features for suspecting FOP are short thumbs, muscle swelling, redness, and inflammation. These features confirm FOP 80%. 

For additional confirmation, GTR (genetic testing registry) is done for genetic conditions and confirming mutations. This care is given either by a health care provider or a genetic professional. This test also carries questions and answer sessions with the patient and the family.  

Treatment

No definitive treatment is available for FOP. It can be solved by a high dosage of corticosteroids if given within 24 hours of flare-ups. Treatment through corticosteroids is seen in the early stages of FOP. other than that, medications like

  • Muscle relaxants 
  • Mast cell inhibitor
  • Aminobisphosphonates are given to reduce pain and swelling. 

Why surgery is not recommended in FOP? 

Why surgery is not recommended is the most common question people ask from their physicians. The answer to this query is surgery promotes more bone and muscle development. It will remove the excess temporary but also gives a lot of pain and new bone growth. Surgery, in this case, is also hazardous. 

The research for effective treatment and medications is still going on. Medications available in the market can only relieve either pain or early symptoms. 

FOP or Fibrodysplasia Ossificans Progressiva. Different right? 4 - Daily Medicos
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Other diseases that are like FOP

Other diseases have common signs and symptoms like FOP and can make you confuse within, so a proper diagnosis from a professional is needed. Some diseases from a well-known website, i.e., “Orphanet disease page,” are related to FOP and have similar signs as well.

  • Progressive osseous heteroplasia, 
  • Osteosarcoma, 
  • Lymphedema, 
  • Soft tissue sarcoma, 
  • Desmoid tumors, 
  • Aggressive juvenile fibromatosis, and 
  • Non-hereditary (acquired) heterotopic ossification.

Further complications of FOP

Complications in FOP result in diseases and progress in FOP. for example, people suffering from FOP when entering the complication stage are intubated because their Respiratory system gets into distress. So ventilatory support is often. Just like this, they went under the distress of many other organs. 

Further complications of fop are FOP in future encounters

  •  Intubation 
  • Restrictive pulmonary disease
  • Changes in the conduction system of the heart.
  • A little activity can promote myositis or soft tissue injuries. 

FOP patients are kept in anesthesia because of severe pain. And sometimes in intubation. 

Before you leave

FOP is a painful and serious disorder. Early diagnosis can help the person or child in reducing pain and symptoms. But in many conditions, due to severe pain and deadly complication, the affected person can not make it through many years. The maximum age an FOP affected person can live is 40 years if diagnosed in mid-age. But if it is diagnosed early then, it is hard to pass through all years of life. Genetic consultations and genetic counselors play a big role in FOP—either creating awareness or counseling the affected patients and family. If anybody suspects a thought of FOP or have any such symptoms, report to a professional as soon as possible.

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