Bone Mass, Density, Geometry, and Stress–Strain Index in Adults With Osteogenesis Imperfecta Type I and Their Associations With Physical Activity and Muscle Function Parameters

Abstract

Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous heritable connective tissue disorder mainly characterized by bone fragility and increased fracture risk. This study investigated bone parameters in adults with OI type I and their relationship with physical activity and muscle function parameters in comparison with controls. A total of 27 (15 women, 12 men) adults with OI type I and 27 healthy age‐ and sex‐matched controls, with mean age 45 years (range 18–72 years), were included. Peripheral quantitative computed tomography was performed at the lower leg and forearm to assess muscle density, muscle and fat cross‐sectional area (CSA) (66% site), and trabecular (4% site) and cortical bone parameters (66% site) at radius and tibia. Physical activity (step count and moderate‐to‐vigorous physical activity [MVPA]) was assessed by accelerometry, muscle function parameters by Leonardo mechanography (single two‐legged jump – peak power), and hand grip dynamometry (maximal hand grip strength). Overall, the OI type I group had significantly lower muscle CSA at the lower leg and forearm, lower trabecular and cortical bone mineral content, lower polar stress–strain index (SSIp), and smaller cortices but higher cortical bone mineral density and lower step count and MVPA in comparison with controls. Maximal hand grip strength was positively associated with SSIp at radius (p = 0.012) in the control group but not in the OI type I group (p = 0.338) (difference in associations: p = 0.012). No other significantly different associations between bone and muscle function parameters or physical activity (step count or MVPA) were found in the OI type I versus control group. We conclude that adults with OI type I have smaller bones, lower trabecular bone mass, lower estimates of bone strength, and higher cortical density in comparison with controls and that there are some indications of a disturbed biomechanical muscle–bone relationship in adults with OI type I. © 2022 American Society for Bone and Mineral Research (ASBMR).

3D-bioprinted patient-specific organotypic bone model mimicking mineralization dysregulation inFKBP10-related osteogenesis imperfecta

“…On a qualitative level, healthy samples showed a more homogeneous and coherent microarchitecture in the center compared to the OI samples, where we observed an inhomogeneous microarchitecture with both void and sclerotic parts. From a mechanical point of view, the microarchitecture in the center is important for an even load distribution and could be compared with trabecular bone architecture, which is known to be impaired in OI (42,43). Bevers et al recently reported similar observations of microarchitectural heterogeneity in trabecular bone in adults with OI using HR-pQCT (24), while Whittier et al quantified comparable void spaces within osteoporotic trabecular bone which led to poor bone quality reflected in decreased bone strength (25).…”

Radiofrequency Echographic Multispectrometry (REMS): A New Option in the Assessment Bone Status in Adults with Osteogenesis Imperfecta

“…Moreover, Hald et al reported that patients with OI type III have reduced values of aBMD and vBMD (assessed through HR-pQCT) compared to patients with less severe OI [30]. Several recent studies have reported how fragility fracture represents an important problem in patients with OI even during adulthood [25,31]. Particularly, in adults with OI, the risk of fragility fractures in addition to reduced bone strength also seems to be increased through altered biomechanical muscle-bone relationships [31].…”

“…Several recent studies have reported how fragility fracture represents an important problem in patients with OI even during adulthood [25,31]. Particularly, in adults with OI, the risk of fragility fractures in addition to reduced bone strength also seems to be increased through altered biomechanical muscle-bone relationships [31].…”

Low muscle density in children with osteogenesis imperfecta using opportunistic low-dose chest CT: a case-control study

“…However, further exploration found that 80% of OI patients experience inherent muscle weakness instead of reduced activity [10]. Meanwhile, adults with OI had lower lean mass, muscle size, and muscle density compared to healthy controls and presented with markedly impaired muscle function [11]. Therefore, besides bone fragility, OI may be correlated with low muscle mass and function.…”