Dozens of patients with an ultra-rare disorder have been tracked for three years.
Fibrodysplasia ossificans progressiva is a lifelong condition. Estimates on its prevalence vary, but one out of every 1 to 2 million births have at least one confirmed case.
In 2006 it was found that 97 percent of patients had the same genetic variant of the disease.
Stem cells seem to be able to produce bone tissue in places that shouldn't have it because of this genetic change.
It is hoped that the findings of the current research will allow doctors to better meet the medical needs of underserved patients.
Soft tissue from FOP comes in waves. The episodes tend to start in the neck and shoulders in childhood and cause ribbons, sheets, and plates of bone to form.
Mobility is limited and body parts are locked into place by the rigid tissue.
When bone is laid down in a part of the body, it becomes permanent. People need a wheelchair by the age of 20.
Although the pain and swelling experienced by patients can be alleviated with medicine, there aren't any available treatments for FOP.
Sickness and physical trauma can cause flare-ups of muscle swelling and inflammation that can last days to months, leading to bone formation afterwards. There is a chance that the disorder's progression can be stopped if these events are limited.
The recent long-term study is one of the first to look into the progression of FOP among patients. The one-in-a-million disorder has only been studied retrospectively or based on patient reports.
Only 33 people were able to complete the full three-year study with regular check-ups. More than 70% of the original cohort reported a flare-up in the upper back, but also in the hip, shoulder, and lower spine.
New bone was often found at the site of inflammation or pain twelve weeks after a flare up.
70 percent of people over the age of 25 showed new bone volume at an annual study check-up.
Severe pain, soft tissue swelling, and highly restricted movement were the most common symptoms.
The authors conclude that the results from individuals receiving standard care for up to 3 years show the progressive nature of FOP.
Non-steroidal anti- inflammatory drugs are the most common medication used by patients. Nearly 80 percent of participants started a new medication during the study, which suggests that they are desperately trying to find something that can help them.
FOP has an impact on the rest of the body. Respiratory issues, like a reduced ability to expand the chest, were found to afflict patients in the study. The latter can be deadly.
The idea that this may be one of the first signs of the disorder is supported by the fact that every participant had an inward malformation in their big toes. It's believed to be present from birth.
If doctors can keep their eyes out for this clear and early marker of FOP, then genetic screening could be done early to speed up diagnosis and delay the progression of the disease.
If the condition and its symptoms are not well managed, there's a chance that injury, biopsy, muscle fatigue, or injections can accelerate the hardening of soft tissue.
A four-day course of high-dose steroids has been shown to reduce inflammation associated with excess bone development.
The research could help improve the lives of people with FOP in the future.
The study was published in a medical journal.
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