Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with osteogenesis imperfecta type I assessed by high-resolution pQCT

Osteogenesis imperfecta (OI) is a hereditary disorder characterized by decreased biosynthesis or impaired morphology of type I collagen that leads to decreased bone mass and increased bone fragility. We hypothesized that patients with OI have altered bone microstructure and bone geometry. In this cross-sectional study we compared patients with type I OI to age- and gender-matched healthy controls. A total of 39 (13 men and 26 women) patients with OI, aged 53 (range, 2177) years, and 39 controls, aged 53 (range, 2177) years, were included in the study. Twenty-seven of the patients had been treated with bisphosphonates. High-resolution peripheral quantitative computed tomography (HR-pQCT) at the distal radius and distal tibia and dual-energy X-ray absorptiometry of total hip, femoral neck, trochanteric region, and the lumbar spine (L1L4) were performed. The patients were shorter than the controls (159 +/- 10?cm versus 170 +/- 9?cm, p?<?0.001), but had similar body weight. In OI, areal bone mineral density (aBMD) was 8% lower at the hip (p?<?0.05) and 13% lower at the spine (p?<?0.001) compared with controls. The trabecular volumetric bone mineral density (vBMD) was 28% lower in radius (p?<?0.001) and 38% lower in tibia (p?<?0.001) in OI compared with controls. At radius, total bone area was 5% lower in OI than in controls (p?<?0.05). In the tibia, cortical bone area was 18% lower in OI (p?<?0.001). In both radius and tibia the number of trabeculae was lower in patients compared to the controls (35% and 38%, respectively, p?<?0.001 at both sites). Furthermore, trabecular spacing was 55% higher in OI in both tibia and radius (p?<?0.001 at both sites) when compared with controls. We conclude that patients with type I OI have lower aBMD, vBMD, bone area, and trabecular number when compared with healthy age- and gender-matched controls. (C) 2012 American Society for Bone and Mineral Research.