Pathophysiology and the Associated Risk Factors of Osteogenesis Imperfecta

Osteogenesis Imperfecta
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Osteogenesis Imperfecta
A rare disease restricts the affected individuals from moving, making them functionally dependent on daily living activities. A collagen disorder affects the skeletal system with associated findings outside this system. The former’s findings include reduced bone mass, which predisposes the individual to fractures secondary to the lack of bone stability. The most common sites of fractures are in the long bones, and it ensues even with minimal impact—moreover, the disease results in deformities in the vertebrae. The extraskeletal problems usually develop during or after puberty, which is the time for the most progressive bone development (Etich et al., 2020).
Pathophysiology
Osteogenesis imperfecta (OI) has four types, but all of these are secondary to defects in collagen. Generally, there is a mutation in the genes encoding type I collagen, namely, COL1A1 and COL1A2. Approximately eighty percent of the affected inherited the genes via an autosomal dominant pattern (Etich et al., 2020). Therefore, the major risk factor is the presence of the disease in the family.<...