Spectrum of microarchitectural bone disease in inborn errors of metabolism: a cross-sectional, observational study

Sidhu, Karamjot; Ali, Bilal Abou; Burt, Lauren A; Boyd, Steven K.; Khan, Aneal

doi:10.1186/s13023-020-01521-6

Cited by 6 publications

(2 citation statements)

References 53 publications

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“…HR-pQCT was also explored in children with OI. 76 In summary, available evidence suggests that the use of HR-pQCT is feasible in patients with OI and may improve prediction of fracture risk and aid treatment planning.HR-pQCT may also be used in other rare diseases, such as X-linked hypophosphatemia, 77 cystic fibrosis, 78 inborn errors of metabolism, 79 and Marfan syndrome. 80 …”

Section: Secondary Osteoporosis and Endocrine Disorders Affecting Bonementioning

confidence: 99%

High-resolution peripheral quantitative computed tomography: research or clinical practice?

Gazzotti

Gómez

Schileo

et al. 2023

The British Journal of Radiology

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High-resolution peripheral quantitative computed tomography (HR-pQCT) is a low-dose three-dimensional imaging technique, originally developed for in vivo assessment of bone microarchitecture at the distal radius and tibia in osteoporosis. HR-pQCT has the ability to discriminate trabecular and cortical bone compartments, providing densitometric and structural parameters. At present, HR-pQCT is mostly used in research settings, despite evidence showing that it may be a valuable tool in osteoporosis and other diseases. This review summarizes the main applications of HR-pQCT and addresses the limitations that currently prevent its integration into routine clinical practice. In particular, the focus is on the use of HR-pQCT in primary and secondary osteoporosis, chronic kidney disease (CKD), endocrine disorders affecting bone, and rare diseases. A section on novel potential applications of HR-pQCT is also present, including assessment of rheumatic diseases, knee osteoarthritis, distal radius/scaphoid fractures, vascular calcifications, effect of medications, and skeletal muscle. The reviewed literature seems to suggest that a more widespread implementation of HR-pQCT in clinical practice would offer notable opportunities. For instance, HR-pQCT can improve the prediction of incident fractures beyond areal bone mineral density provided by dual-energy X-ray absorptiometry. In addition, HR-pQCT may be used for the monitoring of anti osteoporotic therapy or for the assessment of mineral and bone disorder associated with CKD. Nevertheless, several obstacles currently prevent a broader use of HR-pQCT and would need to be targeted, such as the small number of installed machines worldwide, the uncertain cost-effectiveness, the need for improved reproducibility, and the limited availability of reference normative datasets.

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Section: Secondary Osteoporosis and Endocrine Disorders Affecting Bonementioning

confidence: 99%

High-resolution peripheral quantitative computed tomography: research or clinical practice?

Gazzotti

Gómez

Schileo

et al. 2023

The British Journal of Radiology

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“…Other rare conditions with notable interindividual bone phenotype variability include pregnancy- and lactation-induced osteoporosis [ 86 ], and inborn errors of metabolism that affect bone such as hypophosphatasia and X-linked hypophosphatasia, Gaucher disease, and Pompe disease [ 29 , 87 , 88 ]. However, advanced imaging data is limited in these populations.…”

Section: Metabolic and Rare Bone Diseases In The Context Of Bone Phen...mentioning

confidence: 99%

Characterizing Bone Phenotypes Related to Skeletal Fragility Using Advanced Medical Imaging

Whittier,

Bevers,

Geusens

et al. 2023

Curr Osteoporos Rep

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Purpose of Review Summarize the recent literature that investigates how advanced medical imaging has contributed to our understanding of skeletal phenotypes and fracture risk across the lifespan. Recent Findings Characterization of bone phenotypes on the macro-scale using advanced imaging has shown that while wide bones are generally stronger than narrow bones, they may be more susceptible to age-related declines in bone strength. On the micro-scale, HR-pQCT has been used to identify bone microarchitecture phenotypes that improve stratification of fracture risk based on phenotype-specific risk factors. Adolescence is a key phase for bone development, with distinct sex-specific growth patterns and significant within-sex bone property variability. However, longitudinal studies are needed to evaluate how early skeletal growth impacts adult bone phenotypes and fracture risk. Metabolic and rare bone diseases amplify fracture risk, but the interplay between bone phenotypes and disease remains unclear. Although bone phenotyping is a promising approach to improve fracture risk assessment, the clinical availability of advanced imaging is still limited. Consequently, alternative strategies for assessing and managing fracture risk include vertebral fracture assessment from clinically available medical imaging modalities/techniques or from fracture risk assessment tools based on clinical risk factors. Summary Bone fragility is not solely determined by its density but by a combination of bone geometry, distribution of bone mass, microarchitecture, and the intrinsic material properties of bone tissue. As such, different individuals can exhibit distinct bone phenotypes, which may predispose them to be more vulnerable or resilient to certain perturbations that influence bone strength.

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Bone Microarchitecture Phenotypes Identified in Older Adults Are Associated With Different Levels of Osteoporotic Fracture Risk

Whittier

Samelson

Hannan

et al. 2020

Journal of Bone and Mineral Research

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Prevalence of osteoporosis is more than 50% in older adults, yet current clinical methods for diagnosis that rely on areal bone mineral density (aBMD) fail to detect most individuals who have a fragility fracture. Bone fragility can manifest in different forms, and a "onesize-fits-all" approach to diagnosis and management of osteoporosis may not be suitable. High-resolution peripheral quantitative computed tomography (HR-pQCT) provides additive information by capturing information about volumetric density and microarchitecture, but interpretation is challenging because of the complex interactions between the numerous properties measured. In this study, we propose that there are common combinations of bone properties, referred to as phenotypes, that are predisposed to different levels of fracture risk. Using HR-pQCT data from a multinational cohort (n = 5873, 71% female) between 40 and 96 years of age, we employed fuzzy c-means clustering, an unsupervised machine-learning method, to identify phenotypes of bone microarchitecture. Three clusters were identified, and using partial correlation analysis of HR-pQCT parameters, we characterized the clusters as low density, low volume, and healthy bone phenotypes. Most males were associated with the healthy bone phenotype, whereas females were more often associated with the low volume or low density bone phenotypes. Each phenotype had a significantly different cumulative hazard of major osteoporotic fracture (MOF) and of any incident osteoporotic fracture (p < 0.05). After adjustment for covariates (cohort, sex, and age), the low density followed by the low volume phenotype had the highest association with MOF (hazard ratio = 2.96 and 2.35, respectively), and significant associations were maintained when additionally adjusted for femoral neck aBMD (hazard ratio = 1.69 and 1.90, respectively). Further, within each phenotype, different imaging biomarkers of fracture were identified. These findings suggest that osteoporotic fracture risk is associated with bone phenotypes that capture key features of bone deterioration that are not distinguishable by aBMD.

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Spectrum of microarchitectural bone disease in inborn errors of metabolism: a cross-sectional, observational study

Cited by 6 publications

References 53 publications

High-resolution peripheral quantitative computed tomography: research or clinical practice?

High-resolution peripheral quantitative computed tomography: research or clinical practice?

Characterizing Bone Phenotypes Related to Skeletal Fragility Using Advanced Medical Imaging

Bone Microarchitecture Phenotypes Identified in Older Adults Are Associated With Different Levels of Osteoporotic Fracture Risk

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