The main problem in osteogenesis imperfecta (OI) is bones that break easily. The disorder results from a genetic mutation that affects the body’s production of collagen, a critical protein used to build and maintain bones. Mild cases may result in just a few fractures, while severe ones can lead to hundreds of bone breaks over the course of a lifetime. These fractures can occur for no apparent reason, or as a result of such ordinary events as coughing or rolling over during sleep.
All told, there are eight recognized types of OI. The most common form is the mildest. Most patients with it have a normal or near normal stature with little or no noticeable bone deformity, even though their bones may break easily. Other characteristics include loose joints, muscle weakness and a tendency toward spinal curvature. Some patients develop hearing loss relatively early in life, during their 20s or 30s. (An interesting tell-tale sign that OI is present is a blue or gray tint to the whites of the eyes.)
As yet there is no cure for OI. Instead, the focus is on preventing or controlling fractures. Exercise throughout life is important in order to build both muscle and bone strength. Swimming and water therapy are especially helpful since moving in water presents little risk of fractures. Walking is also recommended (with or without such mobility aids as leg braces).
Maintaining a healthy weight throughout life is also important. As you can imagine, extra weight can endanger fragile bones and compromise mobility. As children grow, it’s a good idea to consult a nutritionist or dietician to learn how to limit portion size so that they don’t gain too much weight, as well as to make healthy food choices so that they get full complement of nutrients. I recommend a good multivitamin/multimineral supplement for insurance.
Researchers are investigating the usefulness of treatment with growth hormone and with bone-building drugs called bisphosphonates. You can find information on the disease itself as well as on ongoing research through the OI Foundation at www.oif.org.
This is a complex disease that requires careful, lifelong management. Learn as much as you can about it and make an effort to keep up with medical advances. Developments in gene therapy may someday make a true cure possible.
Andrew Weil, M.D.