Osteogenesis imperfecta (OI) is a genetic problem that causes bones to break easily, often for little or no obvious reason. As many as 50,000 Americans currently have OI, and there are at least four forms of the disease. If you suspect that you have this condition, contact your doctor immediately. The sooner OI is detected and treated, the more favorable the outcome.
OI is a genetic disorder that is present at birth. It is caused by an abnormality in collagen.
A risk factor is something that increases your chance of getting a disease or condition. If you have the following risk factor for OI, tell your doctor:
A family history of OI
In the four most common types of OI, symptoms may include:
Loose joints and muscle weakness
Sclera (whites of the eyes) may have a blue, purple, or gray tint
Tendency toward spinal curvature
Your doctor will ask about your symptoms and medical history, and perform a physical examination. He or she will probably refer you to a doctor specializing in bone care (an orthopedist) for much of your care. If you have OI, your doctor may diagnose it based on your appearance alone. Tests will likely include:
Collagen biochemical tests
A genetic (DNA) test that may require a skin biopsy
When osteogenesis imperfecta may affect a developing fetus, a level II
can reveal the diagnosis by about 16 weeks, in severe cases. Chorionic villus sampling (CVS) can also be used for prenatal diagnosis.
There is presently no cure for OI, so treatment is directed toward:
Preventing health problems
Improving independence and mobility
Developing bone and muscle strength
Also, a surgical procedure called “rodding” is often considered for people with OI. This surgery involves inserting metal rods through the length of the long bones to strengthen them and prevent and/or correct deformities.
OI is caused by a genetic defect. Overall, any person with OI has a 50% chance of passing the disease to his or her children. Through genetic counseling, OI can be prevented from being passed from one generation to another.
Problems related to OI can be reduced or prevented by a healthy lifestyle with exercise and good nutrition. Avoid smoking and excessive alcohol consumption, which may weaken bone and increase fracture risk.
Please be aware that this information is provided to supplement the care
provided by your physician. It is neither intended nor implied to be a
substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER
IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the
advice of your physician or other qualified health provider prior to
starting any new treatment or with any questions you may have regarding a