A multicenter study to evaluate pain characteristics in osteogenesis imperfecta

Abstract

The objective was to describe pain characteristics and treatments used in individuals with varying severity of osteogenesis imperfecta (OI) and investigate pain‐associated variables. This work was derived from a multicenter, longitudinal, observational, natural history study of OI conducted at 12 clinical sites of the NIH Rare Diseases Clinical Research Network's Brittle Bone Disorders Consortium. Children and adults with a clinical, biochemical, or molecular diagnosis of OI were enrolled in the study. We did a cross‐sectional analysis of chronic pain prevalence, characteristics, and treatments used for pain relief and longitudinal analysis to find the predictors of chronic pain. We included 861 individuals with OI, in 41.8% chronic pain was present, with similar frequency across OI types. Back pain was the most frequent location. Nonsteroidal anti‐inflammatory drugs followed by bisphosphonates were the most common treatment used. Participants with chronic pain missed more days from school or work/year and performed worse in all mobility metrics than participants without chronic pain. The variables more significantly associated with chronic pain were age, sex, positive history of rodding surgery, scoliosis, other medical problems, assistive devices, lower standardized height, and higher body mass index. The predictors of chronic pain for all OI types were age, use of a wheelchair, and the number of fractures/year. Chronic pain is prevalent in OI across all OI types, affects mobility, and interferes with participation. Multiple covariates were associated with chronic pain.

Evaluation of functionality‐mobility in patients with skeletal dysplasias. Application of the STEMS tool (“everyday symptoms and mobility screening tool for skeletal dysplasias”)

“…Results from this study noted a correlation between intensity of pain and age, weight and BMI. People who were older, or presented with increased weight and higher BMI, reported a higher intensity of pain, these results were similar to those published by Rodriguez Celin et al in a large population of individual with OI (Rodriguez Celin et al, 2023).…”

“…More than 60% of people with OI in our population reported pain, with more adults (80%) reporting pain compared with children (55%). Previous authors have reported pain ranging from 30% to 87% of children and adults with OI (Arponen et al, 2018; Fano et al, 2010; Fano et al, 2013; Rodriguez Celin et al, 2023). Intravenous bisphosphonates have been previously reported to be useful for relieving bone pain in children and adolescents (Rodriguez Celin et al, 2020; Rodriguez Celin et al, 2023), and this was supported from results in this study whereby those people who had received bisphosphonates reported a lower prevalence and intensity of pain.…”

“…Previous authors have reported pain ranging from 30% to 87% of children and adults with OI (Arponen et al, 2018; Fano et al, 2010; Fano et al, 2013; Rodriguez Celin et al, 2023). Intravenous bisphosphonates have been previously reported to be useful for relieving bone pain in children and adolescents (Rodriguez Celin et al, 2020; Rodriguez Celin et al, 2023), and this was supported from results in this study whereby those people who had received bisphosphonates reported a lower prevalence and intensity of pain. This was also noted for those participants with OI who accessed physical therapy and used mobility assistance devices.…”

“…High levels of fatigue and or pain associated with function are commonly reported in individuals with skeletal dysplasia, particularly in adults (Ain et al, 2010;Alade et al, 2013;Arponen et al, 2018;Bleck, 1981;Caino et al, 2013;Caino et al, 2022;Ceroni et al, 2018;Dhiman et al, 2017;Fano et al, 2010;Fano et al, 2013;Harsevoort et al, 2020;Hunter et al, 1998;Hyvönen et al, 2020;Ireland et al, 2021;Mahomed et al, 1998;Rodriguez Celin et al, 2023).…”

“…High levels of fatigue and or pain associated with function are commonly reported in individuals with skeletal dysplasia, particularly in adults (Ain et al, 2010; Alade et al, 2013; Arponen et al, 2018; Bleck, 1981; Caino et al, 2013; Caino et al, 2022; Ceroni et al, 2018; Dhiman et al, 2017; Fano et al, 2010; Fano et al, 2013; Harsevoort et al, 2020; Hunter et al, 1998; Hyvönen et al, 2020; Ireland et al, 2021; Mahomed et al, 1998; Rodriguez Celin et al, 2023). Results from this study supported previous reports of high levels of pain and fatigue for individuals with SD, with people who have ACH reporting higher levels of both pain and fatigue when compared to people with OI.…”