Osteogenesis Imperfecta (OI)

Osteogenesis Imperfecta (OI): Overview

Osteogenesis Imperfecta (OI) is a hereditary disorder which affects the bones resulting in the bones being abnormally fragile and prone to breaking. It is also known as “brittle bone disease” and is caused by a mutation in the gene which is responsible for the production of collagen, a protein found in connective tissue which helps form tissues and bones. People with OI usually have a higher than normal number of fractures, and may even end up having disfigured bones or fused vertebra due to scoliosis or kyphosis.

There are four different types of OI which include type I, type II, type III and type IV. Type I is the mildest form which typically presents with bone fragility as well as some mild deformity of the bones, such as bowed legs or arms. Type II is the most severe form and is usually fatal within the first few days or weeks of life. Types III and IV involve less severe bone fragility but more severe deformity and more frequent fractures. Most people with OI undergo many surgeries, usually to correct their bone deformity. Additionally, those with OI may also have hearing loss, vision problems, fragile teeth and stunted growth.

Management of Osteogenesis Imperfecta

The management of OI is focused on preventing fractures and maintaining regular bone health. It typically involves lifestyle changes such as avoiding activities that increase the risk of injury, weight reduction to reduce pressure on the bones, and early treatment of any fractures. Physiotherapy is also useful in enhancing strength, flexibility and endurance. Additionally, medications such as bisphosphonates can be used to strengthen the bones and reduce the risk of fractures. Surgery may be required in some cases for correcting and stabilizing deformity.

Living with Osteogenesis Imperfecta

Living with OI can be difficult for both the patients and their families, as it often involves making major lifestyle adjustments and managing pain. Doctors and other healthcare professionals are an essential source of information regarding management of OI. Additionally, joining support groups to get help and advice from those living with OI can be beneficial.

  • Strengthen bones through exercises to reduce risk of fractures
  • Reduce weight to apply less pressure on bones
  • Take prescribed medications to strengthen bones
  • Undergo surgery to correct deformities
  • Join support groups to get help and advice from others dealing with OI
  • Maintain overall good health and nutrition