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Osteogenesis Imperfecta

by Jeffrey R. Carlson, MD
In my practice, I see people who present with a bone fracture that has occurred because of an injury or for no known reason.  Most often, these people have osteoporosis, which makes bones less dense and brittle, or they may have a tumor which has eroded the bone, making it weak and allowing a fracture to occur.  There is however a rare genetic disorder called Osteogenesis Imperfecta that can lead to weak bones.  This is diagnosed in the first few years after birth and affects less than 2% of the American population.
Osteo=bone, genesis=beginning, imperfecta=flawed. Their bones are problematic from the start because the genetic defect they have doesn’t allow the body to produce enough collagen to create healthy bones or the collagen that they create is of poor quality.  Collagen is a major component of connective tissue and bone, so when it is of compromised quality or there is not enough of it, bones are not sufficiently strong, so they easily fracture.
It is estimated that Osteogenesis Imperfecta or OI, affects 20,000-50,000 people in the United States alone, but many cases go undiagnosed for years.  OI may be diagnosed on clinical findings alone and where diagnostic testing has ruled out other causes.  However, DNA testing and collagen biopsies may be needed to make a definitive diagnosis, as OI can manifest itself differently in each person.
There are eight types of OI, which indicate the gene mutation and the type and severity of symptoms.  All types result in bones that fracture easily, with some fractures occurring while in the womb.  In some, the whites of the eyes (sclera) can be tinted, the face can be triangular in shape, hearing can be lost and the teeth can be brittle.   Many patients with OI will have smaller than normal stature.  In others, severe deformities can occur.  In a few types of OI, the patient often dies shortly after birth due to respiratory issues caused from under developed lungs.
Orthopaedists can be members of a team of specialists at specialized OI clinics that will also include a geneticist, an endocrinologist, a nephrologist, a neurologist, a physical therapist, an occupational therapist, and a nutritionist.  This team approach is used to increase the patient’s bone and muscle mass through nutrition, medication and exercise.  Surgery may often be required to repair fractures or to prevent them.  More on that in a minute…
Nutrition – Food is the building material we use to help maintain the structures of the body.  Patients need to eat healthful and nutritious foods to assist with the building of bone and muscle.
Medication – Drugs that are used to treat osteoporosis, called biophosphonates, are used to assist with increasing bone mass. These can either be taken orally or injected.  Human growth hormone (HGT) can be used to increase muscle to assist with supporting the body and bones.  Gene therapy is also being used as a treatment.
Exercise – Gentle, strength building exercise is key to treatment because a person with OI needs strong muscles to support their body.  Swimming, water therapy and walking are great exercises.  Physical Therapy may also be needed to teach persons with OI how to safely move and exercise.
Surgical Treatment – Besides surgically repairing bone fractures when needed, a surgical procedure called “rodding” is often used to help people with OI.  This procedure involves the insertion of a metal rod into the bone which provides increased strength and stability for the bone, as well as correction of bone deformities.
No-Nos for People with OI – There are several things that a person with OI should avoid:  drinking excessive amounts of alcohol, smoking, steroids, caffeine and being overweight.  All of these can contribute to bone loss and to the increased risk for fractures.
While OI can sound like a grim diagnosis, most people function quite well and lead completely normal lives, going to college, having a career, getting married, raising a family, etc.  When working with a qualified Orthopaedic specialist to maintain optimal health, OI patients can expect to do all of the above and more.

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