Osteogenesis Imperfecta (OI) means imperfect bone formation. It is a group of genetic disorders that mainly affect people’s bones and people are born with it, versus develop it.
OI is often known as Brittle bone disease. People with OI fracture very easily, even without trauma occurring.
Pain is very common with OI, which can affect the quality of life of those with this condition.
There are approximately 19 recognized forms of OI.
Several types of OI are distinguished by their signs and symptoms, although their characteristic features do overlap. Genetic causes are used to define rarer forms of OI.
Type I OI which is also known as classic non deforming OI with blue sclerae, is the mildest form of OI.
It is characterized by bone fractures during childhood and adolescence, that can be considered fragility fractures as they occur from incidents that healthy bones would generally not fracture from.
Example: A fracture occurring in a child when they are learning how to walk.
Fracture rates tend to decline as the person matures into adulthood.
People with mild forms of OI typically have a blue or grey tint in their sclera, which is the white part of the eye and approximately 50% of those affected can develop hearing loss in adulthood.
People with type I OI are usually normal height, unlike those with severe forms who tend to be shorter in stature.
Type II OI, is the more severe form with collagen abnormalities, which results in dwarfism and bones breaking very easily.
Collagen is the main protein found in the body and bone, cartilage, tendons, ligaments and teeth are all made up of it. Usually there is a bluish tint in the whites of their eyes.
Type III OI, people usually will be shorter in height and may have severe bone deformities, including spine and ribcage deformities. They can have breathing and swallowing issues.
Bone is living tissue that is constantly being removed and replaced. You will not feel your bones getting thinner, that is why it is so important to check if you are at risk. Osteoporosis is preventable and treatable in the majority of people. The image directly above shows how Osteoporosis causes large holes to develop in bone, which is why bones break easily.
Go onto our website and take our 3 minute risk factor test www.irishosteoporosis.ie