What are the management considerations for osteogenesis imperfecta in adults?

Management Considerations for Osteogenesis Imperfecta in Adults

Adults with osteogenesis imperfecta require systematic pulmonary function monitoring, pharmacologic bone therapy with bisphosphonates as first-line treatment, and coordinated interdisciplinary care to reduce fracture risk and prevent respiratory failure—the leading cause of death in this population. 1

Pulmonary Assessment and Monitoring

Respiratory failure is the main cause of death in OI, making pulmonary evaluation critical even in mild cases. 1

Basic Pulmonary Testing Protocol

• Perform FVC, FEV1/FVC ratio, and pulse oximetry at transition to adult care for mild OI 1
• Repeat these tests every 5 years for mild OI if initial values are normal and patient is asymptomatic 1
• For severe OI, repeat pulmonary function tests annually regardless of symptoms 1

Patient-Reported Outcomes

• Use the St. George's Respiratory Questionnaire for COPD Patients (SGRQ-C) to assess breathing-related quality of life 1
• Screen for sleep disturbances with standardized sleep questions to identify patients at risk for obstructive sleep apnea, which is underdiagnosed but more prevalent in OI than the general population 1

Key Clinical Insight

Respiratory impairment in OI occurs independent of scoliosis severity, OI type, or age—the underlying lung physiology itself is abnormal due to collagen type I defects affecting lung parenchyma and airways. 1 This means all adults with OI need routine pulmonary monitoring, not just those with severe spinal deformity.

Pharmacologic Bone Therapy

First-Line Treatment

Bisphosphonates are the primary pharmacologic intervention for adults with OI, with evidence showing increased bone mineral density, though definitive fracture reduction data remain limited. 2, 3, 4

• Oral or intravenous bisphosphonates should be initiated in adults with OI who have low bone mass or history of fragility fractures 2, 3
• For patients with contraindications or adverse effects from bisphosphonates, consider RANK ligand inhibitor (denosumab), though systematic data in OI are lacking 3

Alternative Anabolic Agents

• Teriparatide may increase BMD in adults with type I OI specifically, but its effect appears limited to this milder phenotype 2, 3
• Evidence for romosozumab, abaloparatide, and other newer agents in adult OI is insufficient to guide routine use 3

Critical Caveat

Unlike in childhood OI where bisphosphonates clearly reduce fracture risk, the anti-fracture efficacy in adults across the lifespan is equivocal—treatment decisions must weigh BMD improvement against uncertain fracture outcomes. 2, 3, 5

Fracture Risk Assessment

Fracture rates remain elevated throughout adult life in OI, with the magnitude of fracture risk far exceeding what low BMD alone would predict due to defective bone matrix quality. 2

• Assess fracture history, current mobility status, and presence of limb deformities at each visit 2, 6, 4
• Monitor BMD with DXA, recognizing that bone quality defects—not just quantity—drive fracture risk in OI 2
• Men with OI warrant particular attention as they often have greater morbidity and mortality from hip fractures than women 7

Interdisciplinary Care Coordination

A coordinated interdisciplinary team approach improves physical activity, quality of life, and care satisfaction in adults with OI. 6

Essential Team Members

• Bone and mineral physician/endocrinologist for pharmacologic management 6, 4
• Orthopedic surgeon for fracture fixation and correction of limb deformities 2, 6, 4
• Pulmonologist for respiratory assessment and management 1
• Physical and occupational therapists to optimize mobility and function 2, 6, 4
• Geneticist for counseling and family planning discussions 4

Functional Outcomes

Structured interdisciplinary care with annual comprehensive evaluations increases physical activity participation—62% of previously inactive patients start some activity, and 44% of non-athletic patients begin sports participation. 6

Extraskeletal Manifestations

Cardiovascular Considerations

Screen for valvular heart disease and aortic root dilation, as collagen type I defects affect cardiovascular structures 2

Dental Care

Dentinogenesis imperfecta occurs in approximately 50% of OI patients—coordinate with dental specialists for preventive care 4

Hearing Assessment

Progressive hearing loss is common in OI adults—refer for audiologic evaluation if symptoms develop 2

Common Pitfalls to Avoid

• Do not assume respiratory function is normal based solely on absence of scoliosis—intrinsic lung abnormalities exist independent of spinal deformity 1
• Do not rely exclusively on BMD values to guide treatment decisions—bone quality defects are the primary driver of fracture risk in OI 2
• Do not overlook sleep-disordered breathing, which is underdiagnosed despite higher prevalence in OI 1
• Do not treat OI as solely a pediatric condition—fracture risk and complications persist throughout adult life 2, 3

Monitoring Schedule Summary

For mild OI adults:

• Pulmonary function tests every 5 years if normal and asymptomatic 1
• Annual comprehensive interdisciplinary evaluation 6
• BMD monitoring every 2 years if on pharmacologic therapy 7

For severe OI adults:

• Annual pulmonary function tests regardless of symptoms 1
• Annual comprehensive interdisciplinary evaluation 6
• BMD monitoring annually or every 2 years depending on treatment 7