How Is Osteogenesis Imperfecta (OI) Diagnosed?
Besides a family history of OI, doctors look for frequent or unexplained bone fractures,
dental problems, blue sclera (the white part of the eye), short stature, and other
symptoms as signs that a child has OI.
They might also order tests like:
- X-rays, which can show fractures or healed breaks
- DNA tests, to identify the collagen gene mutation
- blood tests or urine tests, usually to make sure that other conditions,
such as rickets, aren't causing the symptoms
- biochemical testing, which may include a skin
sample to examine the collagen
In severe cases, prenatal
testing (such as an ultrasound)
can detect fractures and bone deformities before a baby is born.
How Is Osteogenesis Imperfecta (OI) Treated?
There's no cure for osteogenesis imperfecta. Treatment is based on a child's specific
symptoms, and can include physical therapy and mobility aides, occupational
therapy, medicine, and surgery. The goal is to prevent fractures, treat them properly
when they do happen, preserve mobility and independence, and strengthen bones and
muscles.
The treatment team might include a primary care doctor, an orthopedist, rehabilitation
specialists, an endocrinologist, a geneticist, a neurologist, and a pulmonologist.
Preventing Broken Bones
Preventing bone fractures is key for people with OI. They can lower their risk
of broken bones by:
- avoiding activities that put them at risk for a fall or collision, or put too
much stress on the bones
- doing low-impact exercises (such as swimming) to build muscle strength and mobility
and increase bone strength
Handling Fractures
When bones do break, it's important to treat them right away with casts,
splints, and braces. Orthopedists (doctors who specialize in treating bone problems)
might recommend using lightweight versions of these devices that allow some movement
during healing.
Physical Therapy
Physical therapy (PT)
can be helpful for many kids with OI. It can build muscle strength, which helps maintain
function, promote aerobic fitness, and improve breathing. Kids who need them can learn
how to use mobility aides and assistive
devices. In younger kids, PT can help with motor skill development.
Medicines
Doctors might prescribe bone-strengthening medicines to increase bone density and
further reduce the chances of fractures. Some people will need treatment to maintain
bone strength for the rest of their lives.
Surgery
Sometimes, surgery is needed to repair a broken bone or fix a deformity. Surgeons
also might place metal rods into long bones (like the femur, tibia, and humerus) to
prevent breaks. Surgery also can correct dental problems from brittle teeth, and help
with hearing problems.
Looking Ahead
Bone breaks due to OI usually lessen in early adulthood, although they can start
happening again later in life.
Taking steps to prevent fractures — along with early, ongoing medical care
— will help most people with OI lead healthy, productive lives.
For more information about osteogenesis imperfecta, visit the Osteogenesis
Imperfecta Foundation (OIF) website.
Date reviewed: February 2018