Three-year-long studies have followed dozens of patients suffering from an extremely rare disorder that slowly turns muscle, ligaments, and tendons to bone.
Fibromyalgia progressiva (FOP), is the name for this irreversible, lifelong condition. Although estimates vary on the prevalence, approximately one in 100 cases is confirmed. Every 1 to 2 Million Births.
Only About 800 patientsFOP has been recognized worldwide and was confirmed in 2006. 97% of patientsThe same genetic variant of the disease may be present in both parents.
This mutation occurs in the gene that codes for a receptor responsible for bone development. Stem cellsTo produce bone tissue in places it shouldn’t.
FOP is a rare and severe condition. The current research should help doctors better treat patients with this condition.
Progressive calcification of soft tissues from FOP doesn’t happen in a steady fashion. It happens in waves. These episodes typically begin in childhood, usually in the neck and shoulders. They cause ribbons, sheets and plates of bone formation.
It stretches joints and articulations and gradually limits mobility. The rigid tissue locks body parts in place and reduces the lifespan of the affected.
Although FOP is not all the same, the rate of bone calcification is permanent in some people. The majority of people who need a wheelchair are over 20 years old.
Unfortunately, FOP is not currently treated. However, patients may experience some relief from the swelling and pain with medication.
Sickness and trauma can lead to muscle swelling and inflammation that can flare up over the course of a patient’s life. This can often lead to bone formation. There is a possibility that the disorder will not progress if these events are controlled.
This long-term study was the first to examine the progression of FOP in 114 patients. Prior studies of the one-in a-million disorder were either retrospective in nature, or based only on patient reports.
Only 33 people completed all three years of the study, which included regular check-ups. Most were not able to complete the course. Clinical trialsYou can find out more about possible treatments. However, the authors found that 82 patients, more than 70 percent of the original cohort, reported a total 229 flare up events. They were most often located in the upper spine, hip, shoulder, and lower back.
Researchers often find new bone at the sites of pain or inflammation 12 weeks after a flare up.
FOP progression appears to slow with age. However, 70 percent of those aged 25-65 showed increased bone volume at their annual checkups.
These visits revealed that the most common symptoms were severe pain, soft-tissue swelling, and restricted movement.
The results of individuals who were given standard care up to three years showed the progressive nature and debilitating effect of FOP both longitudinally and cross-sectionally. This was most evident in children and young adults. Conclusion.
Non-steroidal anti-inflammatory medications are the most popular ongoing medication that patients use, according to these findings. However, almost 80 percent of patients started a new medication in the course of the study. This indicates that they are trying desperately to find something that makes them feel better.
FOP does not only affect the musculoskeletal systems. The majority of patients in the study suffered from respiratory problems, such as a decreased ability to expand their chests and hearing loss. These issues can even lead to death.
Each participant showed an inward malformation in their growth of their big feet, which is consistent with the hypothesis that this could be the first sign of the disorder. It is believed that it has been present since birth.
This early indicator of FOP can be detected by doctors if they are alert. Genetic screening could be performed early To speed up diagnosis and possibly delay progression of the disease.
If the diagnosis takes too much time and the condition and its symptoms don’t get well managed, there’s a higher chance of injury, biopsy or muscle fatigue which can accelerate the hardening.
Four-day high-dose corticosteroids courseIt has been proven that flare-ups can reduce inflammation and excess bone formation.
The new researchIn combination with ongoing clinical trialsThis could make a significant difference in the lives of FOP patients over the next few years.
The study was published in Genetics in Medicine.
