Osteogenesis Imperfecta (OI), also known as brittle bone disease, is defined as a disorder that causes irregularities in the formation of bone. It is considered to be an inherited collagen disorder.
During development, a mutation occurs along either chromosome 17 or 7 (the actual mutation location can vary within families). This mutation variability is termed locus heterogeneity.
The procollagen triple helix produced from these two chromosomes plays a big role in bone development. In osteogenesis imperfecta, because of the mutation, the bones become brittle.
Collagen itself is very important because it helps give bones it’s strength and reinforcement stability. Without this needed stability and strength, fractures easily occur.
It can cause additional complications such as hearing loss, bone deformities and even short stature, just to name a few. It is estimated that as many as 50,000 people in the United States currently have OI.
There are four main types of OI which include mild, neonatal lethal, severe/progressively deforming, and lastly, moderately severe. Mild (type I) is the most common among the four.
There is a wide range of clinical manifestations that may occur, but the most common is bone fracture. Diagnosis is often made clinically, but may include the use of detailed tests which include collagen or molecular testing. Unfortunately, even if this testing is done, a negative result will not rule out OI completely.
Treatment of OI is limited, as there is no cure, but there are ways to help prevent future fractures – one suggestion is exercise.
Exercise may include swimming or other types of water therapy. These are low impact forms of exercise with an overall low risk for fracture. Walking is another option for patients if they are able to ambulated safely.
Additionally, administration of bisphosphonates may be an option. Bisphosphonates have the potential to decrease fractures as it helps to decrease the reabsorption of bone. Lastly, human growth hormone may be an option to help increase growth rate.
The National Institute of Health notes that the overall prognosis of OI will vary. Each OI type will have its own individual prognosis.
The most common cause of death in patients with OI is respiratory failure. The majority of children and adults with OI are able to function and play active roles in society, with some limitations in activity.
A study done by Tosi et all (2015) found that even with a diagnosis of OI, adults reported being able to lead similar lifestyles as the general public.
While OI is a rare disease process, it is still important for clinicians to be aware of its existence and the complications that it may present.
By having a clear understanding of this disease, practitioners can keep this as a differential when working up patients who present with frequent fractures. Lastly, practitioners can educate the public regarding this disease process and its possible treatments.
Tracy Lindstrom RN, BSN, DNP-s
Forlino A., Cabral W., Barnes A., Marini J. (2012). New perspectives on osteogenesis imperfecta. National Review of Endocrinology, 7. 540–57
Jorde, B., Carey, J., Bamshad, M. (2016). Medical Genetics (5th ed). Philadelphia: Elsevier.
NIH Osteoporosis and Related Bone Diseases. (2015). Osteogenesis imperfecta overview. Obtained from
Tosi, L., Oetgen, M., Floor, M., Huber., Kennelly, A., McCarter, R., & … McKiernan, F. (2015). Initial report of the osteogenesis imperfecta adult natural history initiative. Orphanet
Journal of Rare Diseases, 101-12. doi:10.1186/s13023-015-0362-2