Making Imperfect Bones Perfect
The orthopedic system is the framework upon which our entire bodies are built. But, what happens when osteogenesis imperfecta (OI) happens? The body experiences impaired ability to create healthy bones, resulting in weak bones with high risk for fractures.
Fortunately, doctors have a wide range of effective treatment methods that make imperfectly formed bones perfect – or at least, as healthy as can be.
Understanding the Cause
Osteogenesis imperfecta is a genetic disorder where the gene responsible for the production of type I collagen malfunctions. Type I collagen is important for two reasons: First, it is a major part of the bones’ connective tissues; and second, it is essential in the formation of ligaments, teeth and sclera (the eyeballs’ white outer tissue).
The result: The collagen produced by the body is either insufficient in quantity or poor in quality. The bones will then break easily but heal at a normal pace.
Knowing the Signs
Doctors have identified four different types of OI with symptoms ranging from mild to severe. A few of the common symptoms include bone deformities, such as scoliosis and bowed legs; short stature; breathing problems; triangular-shaped face; brittle teeth; and hearing loss.
Improving Health
Scientists have yet to identify a cure for OI but patients’ lives can be improved with certain treatments, especially when applied during childhood. Doctors will work alongside physical therapists, nurse-clinicians, and social workers as well as the patients and their families for effective management.
Doctors usually combine non-surgical and surgical treatments. In most cases, non-surgical treatments are used while surgery is performed for severe cases.
The non-surgical methods include:
- Medications, such as medical bisphosphonates, which can be provided either via oral intake or intravenous administration. Bisphosphonate treatment slows down the breaking down of bone, releasing of their minerals, and transferring of calcium to the blood (i.e., bone resorption). It also reduces bone pain and the number of fractures in patients with severe forms of OI.
- Immobilization including bracing, splinting, and casting fractures to facilitate healing.
- Low-impact exercises including weight bearing exercises as well as walking and swimming. These decrease the risks for fractures while increasing the range of mobility.
Surgery, which includes rodding and spinal fusion, is recommended for fractures that are not healing well, bone deformity, and repeated fractures on the same bone.
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