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How to identify the rarest disease in the world - Stone Man Syndrome?
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare connective tissue disease characterized by the gradual transformation of fibrous connective tissue such as muscles, tendons and ligaments into bone tissue. This disorder is believed to be the only known medical condition with the ability to transform one organ system into another. There are no treatments for those devastated by the disease, and its progression often leads to severe physical disabilities.
The formation of Stoneman syndrome is related to mutations in the ACVR1 gene, which affects the body's repair mechanism.
The fibrous tissue of patients with FOP will produce bone tissue in an abnormal way under the influence of trauma or the body's own body. The new bone formation during this process builds a secondary skeleton and gradually limits the patient's mobility. In severe cases, patients may even be completely unable to move due to the formation of new bone, which has given FOP the nickname "Stone Man's Disease."
Symptoms and manifestations of stone man syndrome
The first symptom of FOP is usually a congenital deformity of the big toe, and before the age of 10, patients will experience the first "outbreak" period, when bone hyperplasia begins. Bone growth generally occurs from the upper part of the body downward, initially in the neck, and then spreads to the shoulders, arms, chest, and finally the feet. Skeletalization first appears on the back, trunk, head, and areas near the center of the body, and then moves to distal areas of the body as the disease progresses.
When the condition worsens, it may cause the joints to become inflexible, and even affect speaking and eating.
Interestingly, these abnormal bone growths do not cause the patient to become strong and sometimes even restrict breathing, as the bone formation around the ribs compresses the lungs, making breathing difficult. Because the disease is so rare, affecting about one person in the population, it is often misdiagnosed as cancer or fibrosis, which may lead doctors to recommend a biopsy, which instead promotes the growth of bone in FOP.
Causes and genetics of disease
The cause of FOP is currently believed to be caused by a recessive gene mutation on chromosome 2. Most patients with FOP have disease-causing genetic mutations that arise spontaneously. This mutation causes the body's repair mechanisms to malfunction, causing fibrous tissue that does not form new bone to grow abnormally in response to any trauma or inflammation.
Mutations in the ACVR1 gene can incorrectly turn on the body's bone-building process, which is key to FOP.
This mutation essentially interferes with the body's normal growth and development mechanisms, seeming to mislead the body's muscles and soft tissues into signals for bone tissue development, ultimately rendering the affected person's body unable to move normally. In some cases, affected individuals are even completely non-contagious due to genetic mutations that are not present in their families, making FOP considered a difficult subject to study in the medical community.
How to diagnose stoner disease
Due to the specificity of FOP, early diagnosis through imaging examinations is very important to avoid unnecessary invasive examinations. Professional clinicians need to be aware of this rare disease because it is often misdiagnosed as other conditions, resulting in patients receiving potentially worsening tests or treatments.
Successful early diagnosis can detect abnormal bone changes in the body through X-rays and clinical observation.
In addition to imaging diagnosis, blood tests can also be used to detect the presence of biomarkers related to FOP, such as alkaline phosphatase and other indicators. In patients affected by FOP, deformed heads and toes are also an important diagnostic clue.
Treatment and future prospects
There is currently no cure for FOP, but new treatments such as Sohonos (palovarotene) have been approved, and this product has attracted widespread attention in the medical community. Nonetheless, surgery is often not an effective treatment option because it can lead to rapid growth of new bone tissue after surgery. People with FOP often have difficulties undergoing any surgery or brain anesthesia, and these situations must be treated with caution.
Intermittent therapies such as anti-inflammatory drugs can help reduce the onset of FOP, but they do not cure it.
In recent years, research on FOP has gradually received attention, and many new treatments have been proposed, including anti-sense gene therapy, which are expected to have positive effects on FOP patients. A clear direction requires more scientific exploration and clinical trials to confirm its effectiveness. As unique as FOP is, how else can we seek solutions for other rare diseases?
