Brittle Bone Disease

Definition

Definition of Brittle Bone Disease
Brittle bone disease is more commonly known as osteogenesis imperfecta (OI). It is a rare, usually inherited disorder that causes bones to break easily due to the body’s low production of collagen. There are six different types of brittle bone disease. The last two types, Type V and Type VI have been recently identified, and many articles refer to only four different types. The type of brittle bone disease indicates the degree to which the condition may impact one’s life. While some people are severely affected by brittle bone disease, others are able to live a relatively normal life.

Symptoms

Symptoms of Brittle Bone Disease
One of the biggest brittle bone disease symptoms that a person can experience involves a high incidence of bone fractures.

Causes

Causes of Brittle Bone Disease
Besides fractures, there may be problems in other parts of the body. Most of these are, like the fractures, the result of the defects of collagen.

1. The joints may be lax.
2. The whites of the eyes may be blue or grey.
3. The teeth may be discoloured and fragile.
4. There may be an increased liability to bruising (thought to be due to the defective collagen in small blood vessels).
5. Deafness may occur (see below).
6. Hernias are more common in people with OI.
7. Excessive sweating or intolerance of heat are common complaints. The cause of this is not known.
8. Growth may be impaired.

Diagnosis

Diagnosis of Brittle Bone Disease
In most people the diagnosis is made from the pattern of fractures and the finding of any of the associated clinical features, such as blue or grey whites of the eyes. However, it's important to recognise that none of these signs may be present and that the diagnosis may be very difficult. In severely affected people, X-rays may show characteristic abnormalities – the result of previous fractures.

In many people with only mild or moderate OI, the X-rays may appear normal at the time of the first few fractures. Later, in bones that have been the site of previous fractures, the bones may appear demineralised (less white on X-ray), and reduced radiation may be needed to obtain satisfactory films for the diagnosis of fractures.

Treatment

Treatment of Brittle Bone Disease
Brittle bone disease has no cure, so treatment aims toward reducing breakages and deformation. In Type I and Type IV, the bones appear to be more vulnerable to breakage during growth spurts, and breakages occur with even the simplest of injuries. Physical therapists work with children to help them build muscle tone to protect bones. Some patients undergo surgery to fuse the spine, which may help with posture and reduce curvature. However, bones are often so fragile that this surgery is quite risky.

Prognosis

Prognosis of Brittle Bone Disease
Consult with your doctor.

Prevention

Prevention of Brittle Bone Disease
Consult with your doctor.