Treatment Plan for Osteogenesis Imperfecta
The treatment of osteogenesis imperfecta requires bisphosphonate therapy as the pharmacologic mainstay, systematic pulmonary function monitoring given that respiratory failure is the leading cause of death, coordinated surgical intervention for fractures and deformities, and aggressive physical rehabilitation—all delivered through a multidisciplinary team approach. 1, 2, 3
Pharmacologic Management
Bisphosphonates: First-Line Medical Therapy
- Bisphosphonates are the cornerstone of medical treatment and have demonstrated benefits in decreasing bone pain, enhancing well-being, improving muscle strength and mobility, and reducing fracture incidence 3, 4, 5
- These agents increase bone mineral density (BMD) consistently across studies, though the magnitude of fracture risk reduction remains somewhat uncertain in adults 4
- For children with severe OI, bisphosphonates have proven particularly beneficial, increasing BMD and reducing both fracture rate and pain with no significant adverse effects reported in open cohort studies 5
- Growth hormone therapy may be beneficial specifically in patients with moderate forms of OI, showing positive effects on bone turnover, BMD, and height velocity 5, 6
Important Caveat on Pediatric Use
- Alendronate is NOT indicated for pediatric patients with OI despite being studied in this population 7
- In a randomized trial of 139 children aged 4-18 years with severe OI, alendronate increased lumbar spine BMD Z-scores but did not reduce fracture risk 7
- More concerning, 16% of alendronate-treated children who sustained fractures had delayed fracture healing or non-union at 24 months compared to 9% of placebo patients 7
- Vomiting occurred in 29.4% of alendronate-treated children versus 10% on placebo 7
Pulmonary Management: Critical for Mortality Reduction
Why This Matters
- Respiratory failure is the main cause of death in OI, making pulmonary assessment absolutely critical even in patients with mild disease who appear asymptomatic 1, 2
- Respiratory impairment occurs independent of scoliosis severity, OI type, or patient age—the underlying lung physiology itself is abnormal due to collagen type I defects affecting lung parenchyma and airways 1, 2
Monitoring Protocol for Children
- Begin pulmonary function testing (FVC, FEV1/FVC ratio, and pulse oximetry) at age 7 years or when the child can reliably perform the test 1
- For mild OI: Repeat testing at transition to adult care, then follow adult protocols 1
- For severe OI: Repeat testing annually starting from initial assessment 1
Monitoring Protocol for Adults
- For mild OI with normal baseline values and no pulmonary symptoms: Reassess FVC, FEV1/FVC, and pulse oximetry every 5 years 1, 2
- For severe OI: Perform pulmonary function tests annually regardless of symptoms 1, 2
- Use the St. George's Respiratory Questionnaire for COPD Patients (SGRQ-C) to assess breathing-related quality of life 1, 2
- Screen for sleep disturbances with standardized sleep questions, as obstructive sleep apnea is underdiagnosed but more prevalent in OI than the general population 2
Advanced Testing
- Chest radiography, peak cough flow, forced expiratory flow at 25%-75% of vital capacity, diffusing capacity, total lung capacity, residual volume/total lung capacity, and expiratory reserve volume may be conducted on a case-by-case basis by the pulmonologist 1
Surgical Management
Intramedullary Rodding
- Intramedullary telescopic rodding is the most successful surgical method for preventing and correcting fractures and deformities of long bones 5
- This approach improves walking capability and leads to successful rehabilitation even in severely affected patients 5
- Appropriately timed surgery provides improved extremity function, though complications rates are high 5
Other Surgical Interventions
- Surgery may be required for patients with progressive spinal deformity 5, 6
- Surgical intervention is indicated for those with symptomatic basilar impression 5, 6
Non-Surgical Rehabilitation
- Aggressive rehabilitative approach is essential to optimize functional ability and walking capacity 5
- Physical therapy, rehabilitation, bracing, and splinting form the foundation of non-surgical management 5, 6
Multidisciplinary Team Composition
A coordinated interdisciplinary team approach improves physical activity, quality of life, and care satisfaction 2. The team should include:
- Bone and mineral physician/endocrinologist 3
- Pulmonologist for respiratory assessment and management 2
- Orthopedic surgeon 3, 5
- Rehabilitation specialist 3
- Physiotherapist and occupational therapist 3, 4
- Geneticist 3
- Dentist (for dentinogenesis imperfecta monitoring) 5
- Social worker/psychologist 3
Additional Monitoring Requirements
- Hearing function must be monitored regularly 5
- Dentinogenesis imperfecta requires dental surveillance 5
- Cardiac and respiratory function need ongoing assessment 5
- Neurological changes should be monitored, particularly for basilar impression 5
Critical Pitfalls to Avoid
- Do not assume respiratory function is normal based solely on absence of scoliosis—intrinsic lung abnormalities exist independent of spinal deformity 2
- Do not overlook sleep-disordered breathing, which remains underdiagnosed despite higher prevalence in OI 2
- Do not use alendronate in pediatric OI patients given lack of fracture reduction and increased risk of delayed healing 7
- Men with OI warrant particular attention as they often have greater morbidity and mortality from hip fractures than women 2