Spectrum of microarchitectural bone disease in inborn errors of metabolism: a cross-sectional, observational study
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(2020) 15:251
RESEARCH
Open Access
Spectrum of microarchitectural bone disease in inborn errors of metabolism: a cross-sectional, observational study Karamjot Sidhu1,2, Bilal Ali1, Lauren A. Burt1, Steven K. Boyd1 and Aneal Khan2,3*
Abstract Background: Patients diagnosed with inborn errors of metabolism (IBEM) often present with compromised bone health leading to low bone density, bone pain, fractures, and short stature. Dual-energy X-ray absorptiometry (DXA) is the current gold standard for clinical assessment of bone in the general population and has been adopted for monitoring bone density in IBEM patients. However, IBEM patients are at greater risk for scoliosis, short stature and often have orthopedic hardware at standard DXA scan sites, limiting its use in these patients. Furthermore, DXA is limited to measuring areal bone mineral density (BMD), and does not provide information on microarchitecture. Methods: In this study, microarchitecture was investigated in IBEM patients (n = 101) using a new threedimensional imaging technology high-resolution peripheral quantitative computed tomography (HR-pQCT) which scans at the distal radius and distal tibia. Volumetric BMD and bone microarchitecture were computed and compared amongst the different IBEMs. For IBEM patients over 16 years-old (n = 67), HR-pQCT reference data was available and Z-scores were calculated. Results: Cortical bone density was significantly lower in IBEMs associated with decreased bone mass when compared to lysosomal storage disorders (LSD) with no primary skeletal pathology at both the radius and tibia. Cortical thickness was also significantly lower in these disorders when compared to LSD with no primary skeletal pathology at the radius. Cortical porosity was significantly greater in hypophosphatasia when compared to all other IBEM subtypes. Conclusion: We demonstrated compromised bone microarchitecture in IBEMs where there is primary involvement of the skeleton, as well as IBEMs where skeletal complications are a secondary outcome. In conclusion, our findings suggest HR-pQCT may serve as a valuable tool to monitor skeletal disease in the IBEM population, and provides insight to the greatly varying bone phenotype for this cohort that can be used for clinical monitoring and the assessment of response to therapeutic interventions. Keywords: Inherited metabolic disease, Rare disease, Lysosomal storage disorders, High-resolution peripheral quantitative compute tomography, Finite element analysis, Bone density
* Correspondence: [email protected] 2 Alberta Children’s Hospital Research Institute, Cumming School of Medicine, University of Calgary, 28 Oki Drive NW, Calgary, Alberta T3B 6A8, Canada 3 Medical Genetics and Pediatrics, Cumming School of Medicine, Alberta Children’s Hospital, University of Calgary, 28 Oki Drive NW, Calgary, Alberta T3B 6A8, Canada Full list of author information is available at the end of the article © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International Licens
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