SUN-752 - Advanced Disease Burden and Surveillance Gaps in Adults with Osteogenesis Imperfecta at First Specialty Care Visit

Background:
Osteogenesis imperfecta (OI) is a chronic skeletal disorder that warrants ongoing specialty care, yet structured transition to adult care is uncommon. Consequently, adult endocrinologists often first encounter patients with OI decades after pediatric follow-up has lapsed. The clinical profile, disease burden, and preventive care gaps among transitioning adults with OI remain poorly described.

Methods:
A retrospective cohort study was conducted on adults with OI presenting for their first adult specialty visit. Clinical profiles evaluated demographics, OI type, and time from age 18 to first OI adult visit (transition delay). Disease burden was characterized by estimated lifetime fracture burden, mobility status, surgical history, and comorbidities (osteopenia/osteoporosis, hearing loss, scoliosis, joint hypermobility, etc.). Completion of recommended surveillance (DEXA, echocardiography, audiology, etc.) was also reviewed.

Results:
Among 109 individuals, 48.6% had type 1 osteogenesis imperfecta, 45.9% had type 3/4, and 5.5% had type 5; the majority were female (62.4%, p=0.009) and White (84.1%, p< 0.0001), fewer than half reported a known family history of OI (48.3%). Among 79 adults with transition data, the median transition delay was 15.6 years, with 78.9% delayed ≥5 years. 55 patients with documented fracture history demonstrated estimated lifetime fracture burden increased with age, adults >50 years—particularly women—having higher mean fracture counts and greater variability (42.2 ± 47.3). Disease burden also varied by OI type, with more severe phenotypes being associated with higher fracture counts (p=0.005), mobility limitations (p < 0.001), and surgical interventions (p < 0.001). Multisystem disease was also common, with a median of 2 comorbidities across 109 patients, including a high prevalence of scoliosis (57.3%), hearing loss (37.3%), and osteopenia/osteoporosis (35.5%). Comorbidity profiles differed by OI type: scoliosis, short stature, and limb deformities were more common in type 3/4, while osteoporosis/osteopenia, hypermobility, and orthopedic surgery did not differ across types. Type 5 was notable for rare hearing loss and limb deformity, universal scoliosis and hypermobility, absence of short stature, and high rates of orthopedic surgery. Furthermore, among 109 patients, all surveillance modalities had < 50% completion rates, revealing substantial gaps in preventive care.

Conclusions:
Transition delays for OI specialty care lead to adults with OI presenting late with advanced skeletal disease, high fracture burden, multisystem comorbidities, and profound deficits in longitudinal surveillance at initial encounters. These findings highlight missed opportunities for fracture prevention, early comorbidity detection, and anticipatory guidance, underscoring the need for structured adult OI transition and care models.

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