How is osteogenesis imperfecta (OI) treated?

Updated: Feb 24, 2020
  • Author: Manoj Ramachandran, MBBS, MRCS, FRCS; Chief Editor: Harris Gellman, MD  more...
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Answer

Because osteogenesis imperfecta (OI) is a genetic condition, it has no cure. For many years, surgical correction of deformities, physiotherapy, and the use of orthotic support and devices to assist mobility (eg, wheelchairs) were the primary means of treatment. [27] Subsequently, as a consequence of improved understanding of the molecular mechanisms of OI, medical treatments aimed at increasing bone mass and strength gained popularity, with surgery increasingly reserved for functional improvement. [6, 7]

Orthotics play a limited role in management of OI and are used to stabilize lax joints (eg, ankle and subtalar joints with ankle-foot orthoses [AFOs]) and to prevent progressive deformities and fractures. It is more important to provide walking aids, specialized wheelchairs, and home adaptation devices to help improve the patient’s mobility and function.

Surgery remains a pillar of treatment for patients with OI, [8] but it should be performed only if it is likely to improve function and only if the treatment goals are clear. Surgical interventions include intramedullary rod placement, surgery to manage basilar impression, and correction of scoliosis. Soft-tissue surgery is used in specific circumstances (eg, lower-limb contractures, particularly those of the Achilles tendon).

Skilled administration of anesthetics and awareness of the limitations of surgery are essential prerequisites. [28] Anesthetic-related problems may arise from in patients with relatively large heads and tongues and in those with short necks. Chest deformities may cause respiratory complications. On the operating table, fractures may arise as a result of the application of a blood pressure cuff or tourniquet, or they may occur during transfers. It is important to watch for hyperthermia and increased sweating.

Home visits and regular clinic assessments are necessary, particularly in the first few years of life. Postoperatively, close follow-up is vital to ensure fracture healing and restoration of function.


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