There is no single test to detect OI. Doctors look at several factors to diagnose OI. These include:
- Family history.
- Medical history.
- Results from a physical exam.
- X-rays.
OI can also be diagnosed through a skin biopsy. A skin biopsy is a surgical procedure in which a doctor removes a small piece of skin. Then, a doctor looks at it under a microscope to see whether there are any collagen abnormalities. In addition, doctors can also diagnose OI through a blood test that detects the abnormal gene that causes OI. These tests detect OI in 9 out of 10 people who have it.
There are several treatments for OI. The goal of treatments is to prevent or control symptoms of OI, developing bone mass and muscle strength, and maximizing a person’s ability to be independent. These treatments include:
Medicines
- Bone strengthening medicines; your doctor may prescribe bone strengthening medicines to slow bone loss and reduce the frequency and seriousness of broken bones.
- Pain medicines; your doctor may prescribe pain medicines to treat pain caused by broken bones.
- Experimental treatments, such as growth hormone treatment, gene therapies, and an injected drug called teriparatide (for adults only) are under study.
Broken Bone Care
Your doctor may cast, splint or brace a broken bone to help it heal correctly.
Surgery
Surgery is a common treatment option for people with OI. Surgery is often recommended by doctors to fix a broken bone, support or correct bones that are curved or bowed, or to support the spine.
Many children with OI have surgery in which a metal rod is placed into a bone. This is called rodding surgery. Rodding surgery is performed to support the bone and prevent the bone from breaking.
Mobility Aids
Using a mobility aid may help you safely perform daily activities and reduce injuries. Walkers, canes, crutches, or wheelchairs are commonly used by people who have OI.
Physical or Occupational Therapy
People with OI may benefit from physical or occupational therapy, which can help:
- Build muscle strength, which may help prevent broken bones.
- Learn how to avoid injuries.
- Safely perform activities of daily living.
- Recover from broken bones.
Dental Care
Some people with OI have brittle teeth that chip or crack easily. If you have brittle teeth, you may require special dental care.
People with OI usually require a health care team made up of several doctors and healthcare providers. Your health care team may include:
- Internists, who diagnose and treats adults.
- Pediatricians, who diagnose and treats children.
- Orthopaedists, who treat and perform surgery for bone and joint diseases.
- Occupational therapists, who teach how to safely perform activities of daily living.
- Physical therapists, who teach ways to build muscle strength and prevent broken bones. Physical therapists may also help you recover from broken bones.
- Nutritionists, who teach how to use diet to improve overall health and stay at a healthy weight.
Certain activities can help you stay health and prevent broken bones.
Follow a nutritious diet.
Exercise as much as possible. Regular physical activity can help strengthen muscles and bones. Swimming and water therapy are common choices for people with OI because exercising in water has little risk of broken bones. Talk with your doctor or physical therapist to discuss appropriate and safe exercise.
Keep a healthy weight. Being overweight increases the risk for many health problems, such as diabetes and heart disease. Extra weight also adds stress to the bones, which is especially unhealthy for people with OI.
Don’t smoke. Smoking causes cancer, heart disease, and other serious health conditions. Smoking can also weaken bones.
Do not drink a lot of alcohol or caffeine. They may weaken your bones.
Do not take steroid medicines. They can weaken bones.
Because OI is a genetic disease, there is no way to prevent it. However, genetic counselors can help people with OI and their family members understand the possibility of their children inheriting the gene or genes that cause the disease. Women with OI who become pregnant, or women who conceive a baby with a man who has OI, have the option to consider prenatal testing, which allow doctors to diagnose OI before the baby is born. Information gained through prenatal diagnosis may be useful for managing pregnancy and delivery and for purposes of family planning.
The prognosis for people with OI varies depending on the disease’s symptoms. Most people with OI have productive and successful lives.