Fibrodysplasia ossificans progressiva (FOP), also known as “stone man disease,” is an extremely rare condition that affects about 1 in 1 million people. It does not discriminate based on sex, race, or ethnicity, as anyone can develop FOP.
The disease is caused by a mutation in the ACVR1 gene, which leads to excessive bone formation in the body. This mutation can occur randomly in individuals without a family history of the disease or can be inherited from an affected parent. The presence of this mutated gene is enough to cause FOP.
Symptoms of FOP usually appear in childhood and include the gradual replacement of muscle and connective tissue with bone tissue, forming a second skeleton that restricts movement. Patients may experience flare-ups, characterized by tissue swelling, pain, and stiffness, which can be triggered by trauma or infection.
As the disease progresses, patients may lose the ability to move by the age of 30, with an average life expectancy of around 56 years. The most common cause of death is cardiorespiratory failure due to the inability to breathe.
Currently, treatment options for FOP focus on managing symptoms with painkillers, anti-inflammatory drugs, and occupational therapy. Surgery to remove excess bone tissue is not recommended as it may worsen the condition. In 2023, the FDA approved a drug called palovarotene for the treatment of FOP, which has shown promising results in reducing excessive bone formation.
It is important to note that this article is for informational purposes only and should not be taken as medical advice. If you have any questions about the human body or health-related topics, you can reach out to us at community@livescience.com.
Emily, a health news writer from London, holds degrees in biology and neuroscience. She has experience in science communication and journalism, being recognized as one of the top journalists under 30 in 2018. For more fascinating discoveries and health news, stay tuned to our website.
