Fibrous dysplasia is an uncommon condition in which normal bone is replaced by fibrous (scar-like) tissue. This results in weak bones, bone deformities, and an increased risk of fractures. Fibrous dysplasia develops when a genetic mutation after conception interferes with the growth of bone-forming cells.
Depending on the degree and site of the fibrous tissue, symptoms range from pain to deformity and fracture. Some individuals may be asymptomatic and learn about the condition during imaging for another concern.
Although there is no cure, treatment aims to control symptoms, prevent complications, and improve quality of life using medication, physical therapy, or, in some cases, surgery. Keep reading to understand more about fibrous dysplasia.
Osteoclasts are involved in the development and progression of fibrous dysplasia of bone (FD). They are bone cells that resorb a small quantity of bone with control, and their activity is essential to enabling the growth of the skeleton and its remodelling.
FD involves impaired osteoblast differentiation and increased osteoclast activity due to GNAS-driven signaling.. Nevertheless, osteoclastogenesis might not remain inhibited long-term in the entire skeleton.
FD is a post-zygotic GNAS (Guanine Nucleotide-binding protein, alpha stimulating activity polypeptide) gene mutation that leads to fibrous tissue replacing healthy bone. It is not inherited and may occur in any bone, including the ribs. Ribs are commonly affected monostotic and are detected as an incidental finding for unrelated complaints.
Many individuals with rib FD are asymptomatic. When symptoms do occur, they may include:
The root cause of FD is a mutation in the GNAS gene that influences cells that make bone, causing damage that results in the formation of fibrous tissue, which is not healthy bone. This mutation is postzygotic, so FD is not inherited, and there is no risk that it will be passed on to offspring.
Diagnosis of rib FD typically involves:
Treatment depends on the severity and symptoms, which include:
Fibrous dysplasia is an uncommon skeletal disorder due to genetic mutations and cannot be prevented, as it is spontaneous in onset. But you can control symptoms and complications by the following:
Since diet or environmental factors do not cause fibrous dysplasia, there is no way to prevent it, but early treatment (analytics, surgery) can help reduce symptoms.
People with fibrous dysplasia can live a normal life, especially if the condition affects only one bone (monostotic). It often causes no symptoms and may be found by chance on an X-ray. When symptoms do occur, they may include bone pain, deformities, or fractures.
Although fibrous dysplasia does not metastasize and is not cancerous, it is a lifelong disease. The majority of patients who receive appropriate medical care can live active lives. It’s essential to track the condition and follow a doctor-recommended treatment plan. Specialist support may assist in dealing with symptoms and enhance quality of life.
Therapeutic approaches are individualized according to the lesions' severity, site, and clinical aspects. However, surgery becomes necessary when FD leads to significant symptoms or complications, involving the following:
Early diagnosis and proper management for fibrous dysplasia can reduce complications. Although there's no cure, treatments like medications, physical therapy, and surgery help improve quality of life and long-term outcomes.
Thus, it is always advised to have health insurance to secure your future health and finances during critical times. At Star Health, our insurance policies offer extensive coverage for congenital diseases. We also provide hassle-free claim settlements with reduced turnaround time across over 14,000 network hospitals in India.
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