Overview
Osteogenesis Imperfecta (OI), commonly known as Brittle Bone Disease, is a rare genetic disorder characterized by fragile bones that break easily, often with little or no trauma. The severity of OI varies widely, ranging from mild forms with few fractures to severe cases causing frequent fractures, bone deformities, and growth problems. In Korea, multidisciplinary care involving geneticists, orthopedic surgeons, and rehabilitation specialists ensures comprehensive management to improve quality of life for patients with OI.
What is Osteogenesis Imperfecta?
Osteogenesis Imperfecta is caused by mutations affecting the production or structure of type I collagen, a critical protein for bone strength. These genetic defects weaken the bones, making them prone to fractures and deformities. OI is inherited in an autosomal dominant or recessive manner, and its clinical manifestations can vary significantly depending on the specific mutation and its effect on collagen.
Symptoms
Symptoms of Osteogenesis Imperfecta include:
- Frequent bone fractures from minimal trauma
- Bone deformities such as bowed limbs or scoliosis
- Short stature and growth delays
- Blue or gray tint to the sclera (whites of the eyes)
- Loose joints and muscle weakness
- Hearing loss in some types
- Dental issues such as brittle teeth (dentinogenesis imperfecta)
Causes
OI results from genetic mutations primarily affecting the COL1A1 or COL1A2 genes, which code for type I collagen. These mutations lead to defective collagen synthesis or structure, resulting in brittle bones. Most cases are inherited, but some occur spontaneously due to new mutations.
Risk Factors
Risk factors include:
- Family history of Osteogenesis Imperfecta
- Specific gene mutations linked to OI
- No known environmental risk factors, as it is a genetic disorder
Complications
Complications from OI can be severe and include:
- Repeated fractures leading to chronic pain and disability
- Bone deformities affecting mobility and function
- Hearing loss due to middle ear bone abnormalities
- Respiratory problems from chest wall deformities
- Dental problems affecting nutrition and oral health
- Increased risk of early arthritis due to joint stress
Prevention
Since OI is genetic, it cannot be prevented. However, genetic counseling is recommended for affected families to understand inheritance patterns and reproductive options. Early diagnosis and proactive management can reduce fracture risk and improve outcomes.
Treatment Options in Korea
Treatment in Korea focuses on improving bone strength, preventing fractures, and enhancing mobility:
- Medications: Bisphosphonates are commonly used to increase bone density and reduce fracture rates.
- Orthopedic care: Surgical procedures such as rodding surgery to stabilize long bones and correct deformities.
- Physical therapy: Customized programs to strengthen muscles, improve mobility, and prevent fractures.
- Hearing and dental care: Regular evaluation and treatment to manage complications.
- Genetic counseling and support: Comprehensive care teams provide education and psychological support.
Leading Korean medical centers offer multidisciplinary clinics specializing in rare genetic disorders like OI, combining advanced diagnostics, personalized treatment plans, and rehabilitation services to optimize patient quality of life.
