What is osteogenesis imperfecta (brittle bone disease)? Osteogenesis imperfecta, often referred to as OI, is an inborn disease in childhood that causes fractures. It also can cause fractures in adults. This genetic disorder normally results from an abnormality of the genes. People who have this disorder do not have the ability to produce a protein called collagen. Collagen is the primary protein in a bone and it is central for the bone’s strength.
Often, a child who is born with osteogenesis imperfecta will have a fracture that has taken place within the womb. Other children, with this debilitating disease, may have their first fracture either soon after birth or within a few years. There are children with osteogenesis imperfecta that may be misdiagnosed because of only having a few minor fractures in childhood.
In childhood, the fractures are often difficult to predict. A fracture may occur spontaneously and with very little trauma. Therefore, the signs of OI may not be evident for weeks or months until an x-ray is done for some other reason. The bones do not necessarily always behave in a brittle way. There are times when a fracture from an injury should normally occur but does not.
Both boys and girls will see their rate of fractures diminish as they grow older. Once again, the reason for this is unknown. There may be other problems in various parts of the body with this disease besides fractures. The results of these other problems are also because of the absence of collagen. Some of the other problems include joints that may be lax, impaired growth, blue or gray whites of the eyes, discolored and fragile teeth, intolerance of heat, and excessive sweating
People who have osteogenesis imperfecta will have had it since the time of conception. The disorder can pass from one generation to another. However, it can also arise in someone without a family history of the disorder. A Nashville clinical geneticist is a specialist in gene problems and he will be able to help you identify both the pattern of inheritance and the risk of passing this condition on to your children.
The primary treatment for anyone who is diagnosed with osteogenesis imperfecta is to ensure that all fractures heal in a good position. A patient should be mobilized as soon as possible after a fracture so that they minimize their loss of bone due to the mobilization.