Abstract
Significant fracture history in children is defined as having at least one vertebral fracture, at least 2 fractures by age 10, or at least 3 fractures by age 19. Between September 2011 and December 2014, clinical data were collected on children with a significant fracture history that attended a major Australian children’s hospital. Fifty-six patients were identified as having 305 fractures in total, including 44 vertebral fractures. 18% of patients (10/56) were diagnosed with osteogenesis imperfecta (OI) by a bone health expert, molecular testing or both, and they sustained 23% of all fractures (71/305). Analysis of serum bone biochemistry showed all median values to be within a normal range and no clinically significant differences between patients with and without OI. The DXA and pQCT derived bone mineral density (BMD) and bone mineral content (BMC) Z scores were reduced overall. DXA derived total body and lumbar spine areal BMD-for-age and BMC-for-age Z scores were significantly lower in children who had vertebral fractures or who were later diagnosed with OI. Similarly, pQCT performed on radii and tibiae showed Z scores significantly less than zero. pQCT-derived limb muscle cross sectional area Z scores were significantly lower in the OI subgroup. In conclusion, this study describes the bone phenotype of children referred to a tertiary hospital clinic for recurrent fractures and highlights a subset of children with previously undiagnosed OI, but a larger cohort without classic OI. Thus it can be clinically challenging to differentiate between children with OI type 1 (mild phenotype) and non-OI children without bone densitometry and genetic testing. We conclude that recurrent fractures in children should prompt a comprehensive bone and systemic health assessment to eliminate an underlying pathology.
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Acknowledgements
We extend our thanks to the participants and their families for accepting to be part of this study.
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The current work was undertaken with a research grant from Osteoporosis Australia and the Australia New Zealand Bone and Mineral Society.
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Dr Fiscaletti reports grants from Osteoporosis Australia/ANZBMS, during the conduct of the study; personal fees from Alexion, outside the submitted work. Mr Coorey reports grants from Osteoporosis Australia/ANZBMS, during the conduct of the study. Dr Biggin reports grants from Osteoporosis Australia/ANZBMS, during the conduct of the study. Ms Briody reports grants from Osteoporosis Australia/ANZBMS, during the conduct of the study. Professor Little reports grants from Osteoporosis Australia/ANZBMS, during the conduct of the study; grants and non-financial support from Novartis Pharma, grants from N8 Medical, grants from Celgene, grants and non-financial support from Amgen Inc., personal fees from Orthopediatrics, outside the submitted work. Associate Professor Schindeler reports grants from Osteoporosis Australia/ANZBMS, during the conduct of the study; grants and non-financial support from Novartis Pharma, grants from N8 Medical, grants from Celgene, grants and non-financial support from Amgen Inc, outside the submitted work. Professor Munns reports grants from Osteoporosis Australia/ANZBMS, during the conduct of the study; grants from Ultragenyx, grants and personal fees from Alexion, grants from Amgen, grants from Novartis, and grant from GSK, outside the submitted work.
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Fiscaletti, M., Coorey, C.P., Biggin, A. et al. Diagnosis of Recurrent Fracture in a Pediatric Cohort. Calcif Tissue Int 103, 529–539 (2018). https://doi.org/10.1007/s00223-018-0449-6
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DOI: https://doi.org/10.1007/s00223-018-0449-6