SUN-755 - Epidemiologic and Clinical Characteristics of Patients with Osteogenesis Imperfecta at the University of Miami School of Medicine

Background: Osteogenesis imperfecta (OI) is a connective tissue disorder marked by bone fragility. While therapeutic advances have grown the adult OI population, data on clinical patterns remain limited, particularly in diverse populations.

Methods: We conducted a retrospective chart review of patients with OI at University of Miami Hospital and Clinics between January 2015 and December 2025. 134 patients were identified via ICD-10 code Q78.0. Data collected included demographics, subtypes, fracture history, bone pain, body mass index (BMI), lab values, bone density, pharmacologic therapy, and specialty follow-up. Descriptive statistics were used to summarize.

Results: The cohort included 134 patients: mean age 44 years (range 2–93); 65% female. 79.9% were White and 6.7% Black, while 35.8% identified as Hispanic. Mean age at diagnosis was 38 years. The majority were nonsmokers (88%) and reported no alcohol use (70.2%). Mean BMI was 26.1, with 55% overweight or obese and 9.3% underweight. Among the subset with OI subtyping (n=34), Type I predominated (68%, 23 patients), followed by Types II–IV (2–4 patients each) and one patient each Types V–VII. DXA was performed in 33.5% of patients: 60% had osteoporosis and 13.3% had osteopenia. Genetic testing was obtained in 26.8%. Laboratory evaluation was inconsistent. Calcium was measured in 45.5%, with mean 9.5 mg/dL. Thyroid-stimulating hormone (TSH) was obtained in 32.1%, with 11.6% with above the reference range. Vitamin D was measured in 32.8% with mean 40.27 ng/mL; and 25% were ≤30 ng/mL, indicating insufficiency. Phosphorus and parathyroid hormone (PTH) were assessed in 22.3% of patients. Pharmacologic treatment was limited; only 26.8% of patients received therapy, although 25.7% of those treated received multiple agents. Alendronate and zoledronic acid (each 34.28%) were the most common, followed by pamidronate (28.56%), denosumab (17.14%), and teriparatide (11.42%): indicating preference for bisphosphonate-based therapies rather than anabolic agents. Only 8.9% of patients were followed by pediatric endocrinology and 19% by adult endocrinology.

Discussion: This study represents, to our knowledge, the first to describe an adult OI cohort from a large, ethnically diverse academic center. It demonstrates variability in presentation and management, with significant gaps in care, including limited use of DXA, genetic testing, laboratory evaluation, and pharmacologic treatment, as well as minimal endocrinology follow-up. These findings highlight opportunities to improve standardized, multidisciplinary care for adults with OI, particularly in diverse populations.

Conclusions: This study highlights significant gaps in the evaluation and multidisciplinary care of OI in a diverse patient population, demonstrating the need for more standardized and inclusive management approaches.

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