What is osteogenesis imperfecta?
Osteogenesis imperfecta (OI) or brittle bone disease is a group of rare disorders characterized by extremely weak bones. It is a genetic condition that makes the bone so fragile that they break or fracture with mild or no apparent injury. The condition affects around 25,000 to 50,000 people in the United States. In most cases of OI, the defect lies in the gene that makes a protein called type I collagen. This protein is important for keeping the bones strong and dense. A defective gene for type I collagen results in the reduced or faulty production of this protein. It makes the bones fragile and vulnerable to fractures. The disease can affect any person. However, the risk is higher in people with a family history of OI. There are around 19 types of OI. The symptoms and severity may vary according to the type of disease. Type I OI is considered the mildest form of the disease, whereas type II OI is the most severe form.
What is the life expectancy of someone with osteogenesis imperfecta?
The life expectancy of a person with osteogenesis imperfecta (OI) greatly depends on the type of the disease. In the most severe form of OI called type II or perinatally lethal OI, the baby is born with multiple broken bones. The baby also has a small rib cage with underdeveloped lungs. Such babies may die soon after birth. People with type III OI also have a significantly shortened life span. Many of these patients die by the time they are 10 years of age.
Those born with the less severe form of the disease, such as type I OI, may lead a healthy life. Their life expectancy is not shortened because of the disease. The life expectancy is generally modestly reduced in people with type IV OI.
What are the symptoms of osteogenesis imperfecta?
The symptoms of osteogenesis imperfecta (OI) may vary according to the type of the disease. The general symptoms may include
- Frequent fractures in the absence of significant trauma
- Bone pain
- Bone deformities (such as abnormally curved spine, bowlegs and knock knees)
- Muscle pains
- Easy bruising of the skin
- A blue, purple or grey discoloration in the sclera (white of the eye)
- Difficulty breathing
- Frontal bossing (a triangular shape of the face with a prominent forehead) and micrognathia (a small jaw)
- Teeth abnormalities such as dentinogenesis imperfecta (brittle teeth)
- Loose joints
- Hearing loss
What is the treatment of osteogenesis imperfecta?
The treatment of osteogenesis imperfecta (OI) largely focuses on managing the individual signs and symptoms, promoting mobility and strengthening the muscles and bones.
- Physical therapy: Physical therapy including exercise helps strengthen the muscles and bones along with reducing the fracture tendency. It includes physical activities such as hydrotherapy (moving around in the water). Physical therapy must be performed under professional guidance to prevent injuries.
- Braces: The doctor may prescribe assistive devices (such as walkers, wheelchairs and crutches) and plastic braces to help with movement along with minimizing the risk of injuries. Inflatable suits may be given to very young children.
- Medications: The doctor may prescribe medications to strengthen the bones and manage symptoms such as pain.
- Surgery: A surgery may be performed to place a metal rod in the long bones (rodding) to prevent fractures. Individuals with severely deformed bones may also need surgery. Dental procedures may be needed for dental abnormalities.
- Hearing: Individuals with hearing difficulties may need hearing aids or surgical procedures (such as stapedectomy or cochlear implants).
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