Manifestations and Comorbid Conditions Among Patients with Osteogenesis Imperfecta (OI): A US Retrospective Claims Database Analysis

OBJECTIVES: Osteogenesis imperfecta (OI) is a hereditary, lifelong, systemic connective tissue disorder characterized by bone fragility resulting in recurrent fractures and skeletal deformities. Patients also suffer from extra-skeletal manifestations and comorbidities including muscle disorders, pain, cardiopulmonary disorders, and more. This retrospective cohort study assesses manifestations and comorbid conditions beyond fractures among patients with OI.

METHODS:

The IQVIA PharMetrics® Plus database was searched for patients with at least two ICD-10 diagnosis codes of OI Q78.0x and ≥12 months continuous enrollment (CE) between Jan 2016-Feb 2020. A non–OI comparator group was created using 1:3 exact matching on age, gender, and payer type. Manifestations/comorbidities were identified via ICD-10 codes (any position) during the continuous enrollment period.

RESULTS: In total, 2095 patients with OI (55.7% female; 35.1% peds; 87.1% commercial-insured) were included. Mean enrollment duration was 3.4 years. 62.7% of patients had muscle or mobility disorders, mostly myalgia (54.3%). 65.3% had joint disorders and 54.2% had skeletal deformities (19.1% deformities of limbs, 16.6% scoliosis). 46.6% had eye issues including 4.2% diagnosed blue sclera. Hearing loss was diagnosed in 25.1% of patients. 86.5% of patients had diagnosed pain (48.2% in limb, 58.6% in joint, 47.0% dorsalgia, and 22.2% chronic pain). 36.2% had cardiovascular/cardiopulmonary disease and 26.0% had hyperlipidemia. Other common manifestations/comorbidities included vitamin D deficiency (23.1%), digestive system disorders (56.0%), and respiratory infections/diseases (72.4%). 55.0% of patients had psychological disorders anxiety (32.8%), depression (22.5%), and sleep disorders (22.2%). The diagnosed occurrence of the above conditions was higher among OI patients than comparators.

CONCLUSIONS: OI imparts a high patient burden and the healthcare system beyond skeletal manifestations of fractures. Patients with OI had a high occurrence of physical and mental conditions that may negatively impact their quality of life. With a limited study period and mostly commercial population, the long-term burden of OI was under-estimated in this study.