Prognosis

Because of the huge individual variability of OI, it is impossible to make general statements about the right treatment and therapies of an affected person. Some predictions based on statistics for each type of OI can be made, but no guarantees can be given as to the number of fractures, height or mobility status that will be attained.
Even within the same family the variation can be considerable. It is recommended to seek individual advice. In many cases bone fragility diminishes after puberty.

Regular follow-up is recommended and several countries have developed guidelines for routine follow-up of children and adults with OI.

Treatment

No cure for OI exists at the moment. And at this time, there are no drug therapies specifically developed to treat OI in either children or adults. The drug therapies currently in use are based on medications developed to treat age-related osteoporosis or cancer-related bone loss in adults in the general population. Bone strengthening in an effort to reduce the frequency and seriousness of fractures is a key treatment issue for children and adults who have OI.

Therefore treatment aims at reducing the impact of the symptoms and at the prevention of complications in the future. This often calls for a multidisciplinary management plan, which may encompass:

  • Visits to a human geneticist (counseling and DNA testing)
  • Orthopedic treatment of fractures and deformities (e.g.: casts, rodding)
  • Screening for hearing loss
  • Screening for dental problems
  • Screening for cardio-vascular problems (heart ultrasound)
  • Screening for respiratory problems (lung test)
  • Pediatric checks
  • Visits to a pain specialist
  • Physical therapy
  • Occupational therapy with advice on equipment
  • Psychological assistance
  • Dietary advice
  • Social assistance

Sufficient levels of vitamin D and calcium as well as a diet that is beneficial for bone health is particularly important for people with OI. Additionally, it is important that people with OI avoid becoming obese.

Attention should be given to the prevention of osteoporosis. For people with OI the added effect of osteoporosis on the skeleton can have more serious consequences. Note that some common medications have a risk of osteoporosis as a side effect.

Several types of bisphosphonates have been used as treatment for children. See updated information on bisphosphonate treatment on the pages of the OI Foundation. Adults with OI are sometimes treated with bisphosphonates, but the effects are less documented.

Several other drugs and therapies are being researched as treatment for in animal models or humans at the moment, but no conclusions have been made so far:

  • Teriparatide
  • Selective estrogen receptor modulator
  • Antibodies (TGFbeta, Denosumab, Setrusumab)
  • Growth hormone
  • Stem-cell therapy
  • Gene therapy

The treatment has to include not only medical aspects, but needs to consider social, personal and environmental factors. The aim should be to achieve a life which is as less influenced by the disease as possible.