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. Casts, splints, or bandages may be used for broken bones. Certain medications may be administered to strengthen the bones. Surgical intervention, such as implanting rods in the longer bones of the body, may be necessary.
Sometimes, a person may have to use a cane, walker, or wheelchair to afford them some independence while compensating for the weakened bones.
At present, there is no cure for OI. For those who have mild or moderate symptoms, life expectancy is not generally affected. When the more severe symptoms occur, the life span of the patient may be shortened. The severest form can cause death at birth or during infancy. The most frequent cause of death from OI is due to respiratory problems and breathing failure. Another cause of death may be accidental trauma.
In order to manage OI, parents of affected children are taught how to handle them safely and how to correctly position them. Because growth and hormonal changes can affect how frequently fractures happen, childhood and puberty can be the most challenging times. As one reaches adulthood, the number of fractures generally decreases. It is important for one to lead a healthy lifestyle and maintain a normal weight when he or she has OI.
(Information for this article was obtained at http://www.oif.org/site/PageServer?pagename=AOI_Facts)