Osteogenesis imperfecta (OI) is a genetic defect resulting in bones that easily break for no apparent reason. This is often referred to as “brittle bone disease.”
Born with this condition, it affects the person for a lifetime. Sometimes, a person can sustain just a few broken bones or quite possibly he or she can be afflicted with several hundred broken bones during a lifetime. When someone has OI, the body simply cannot create strong bones.
There are eight different types of OI, ranging in severity from a mild form with a minimal amount of symptoms to a potentially lethal form. The degree of severity of OI that one has will determine the type of medical problems that will present themselves. A person who is diagnosed with a mild type of OI may only have a few fractures in life, while one who has a much more severe type may experience hundreds of fractures throughout life.
It is estimated that somewhere between 25,000 and 50,000 people in the U.S. have this disease. The reason for the disparity in numbers is that the milder form of OI will often go undetected.
There are several types of OI, and a diagnosis is made based upon observations from a medical examination. OI is classified by types based on genetics, information from x-rays, and clinical picture. The features of OI can vary from one person to another, even when comparing two people who have the same type, and, more interestingly, even within the same family. Not everyone will experience the same characteristics. The different OI types categorize the severity of the symptoms.
Some of the health issues patients incur include a short stature, fragile skin, weak tissues, loose joints, and muscle weakness. They may easily bleed and have frequent nosebleeds. Some people with this condition may bleed heavily from injuries. Hearing loss may start in childhood. Respiratory problems may surface, resulting in asthma or difficulty in breathing. Some patients may develop scoliosis, or curvature of the spine.
Treatment for patients with OI is geared towards minimizing the number of fractures and focusing on general health. This may include physical therapy and safe exercise.