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Osteogenesis imperfecta: Management and prognosis

John F Beary, III, MD
Arkadi A Chines, MD
Section Editor
Helen V Firth, DM, FRCP, DCH
Deputy Editor
Elizabeth TePas, MD, MS


Osteogenesis imperfecta (OI) is an inherited connective tissue disorder with many phenotypic presentations. It is often called "brittle bone disease." Severely affected patients suffer multiple fractures with minimal or no trauma, and infants with the worst form of OI die in the perinatal period. Mild forms of OI may manifest with only premature osteoporosis or severe postmenopausal bone mineral loss.

The goals of therapy for patients with OI are to reduce fracture rates, prevent long-bone deformities and scoliosis, minimize chronic pain, and maximize mobility and other functional capabilities [1-3]. Patients with OI should be referred for evaluation by specialists in genetics and, if clinically indicated, orthopedics with expertise in treating OI at the time of diagnosis [4]. Treatment requires a coordinated multidisciplinary team approach and consists of physical therapy (PT), surgical interventions, medications, and, in some cases, experimental therapies [5-7]. Patients with OI need additional health supervision from their primary care providers and monitoring for potential complications.

The management and prognosis of OI are presented here. The pathogenesis, clinical features, diagnosis, and differential diagnosis are discussed separately. (See "Osteogenesis imperfecta: Clinical features and diagnosis".)


Bisphosphonates are the mainstay of pharmacologic fracture-prevention therapy for most forms of OI (except for type VI (table 1), in which bone mineralization is defective), although none are approved specifically for use in either children or adults with OI. We suggest treatment with intravenous pamidronate for patients with all forms of OI, except type VI, in whom clinical benefits are likely to outweigh potential long-term risks (ie, those with long-bone deformities, vertebral compression fractures, and ≥3 fractures per year). (See "Osteogenesis imperfecta: Clinical features and diagnosis", section on 'Pathology'.)

Bisphosphonates are stable analogs of pyrophosphate and are potent inhibitors of bone resorption and bone turnover. They are used widely in the treatment of osteoporosis in adults and have reduced the risk of fractures in women with postmenopausal osteoporosis, men with osteoporosis, and patients with glucocorticoid-induced osteoporosis in multiple clinical trials.

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Literature review current through: Nov 2017. | This topic last updated: Aug 04, 2017.
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