Purpose
Osteogenesis imperfecta (OI) is a rare genetic disease characterised by bone fragility [1]. The radiographic hallmarks of OI are bone deformities, bone fractures, and generalized osteopenia/osteoporosis [2]. Dual-energy X-ray absorptiometry (DXA) is currently the most used and available method to assess bone mineral density (BMD), in both children and adults. However, DXA has notable limitations [3]: (1) it is a two-dimensional technique, yielding only areal BMD (aBMD), which is influenced by bone size and can be confounded by fractures, kyphoscoliosis, and metallic hardware; (2) a...
Methods and materials
This ongoing prospective study (target = 40 subjects) includes children (> 8 years of age) and adults with OI. Exclusion criteria encompass presence of metallic hardware that impedes adequate scanning, inability to remain immobile for the time required for scanning, pregnancy, and bone loss induced by medications. DXA scans (Hologic QDR Discovery Wi) are performed at the lumbar spine, hip, total body, and non-dominant forearm, following recommendations from the manufacturer and relevant international guidelines [12, 13]. Second-generation HR-pQCT (XtremeCT II, SCANCO Medical) scans are acquired...
Results
Preliminary results obtained in 15 patients (7 females and 8 males, mean age: 27.7 years) demonstrated that only some HR-pQCT parameters correlate well with DXA-aBMD, as shown in Table 1 (radius) and 2 (tibia). [Table 1][Table 2]The strongest and most significant correlations were found between DXA-aBMD at the ultradistal radius and total vBMD (r = 0.89), cortical vBMD (r = 0.83), and Ct.Th (r = 0.87) at the distal radius. This agreement in terms of BMD measurement by DXA and HR-pQCT could be explained by...
Conclusion
In the context of OI, there is initial evidence of site-specific agreement between DXA and HR-pQCT in BMD values at the distal radius, but this is valid especially for the cortical compartment. By contrast, there is limited correlation between DXA-aBMD and trabecular parameters measured by HR-pQCT. Therefore, as DXA-aBMD could better reflect alterations in cortical bone, it may miss deficits in the trabecular compartment, which could instead be detected using HR-pQCT. Since trabecular bone may be crucial in determining fracture risk, the ability of HR-pQCT...
Personal information and conflict of interest
S. Gazzotti:
Nothing to disclose
R. Sassi:
Nothing to disclose
M. P. Aparisi Gomez:
Nothing to disclose
E. Schileo:
Nothing to disclose
F. Taddei:
Nothing to disclose
E. Brizola:
Nothing to disclose
L. Sangiorgi:
Nothing to disclose
M. Miceli:
Nothing to disclose
A. Bazzocchi:
Nothing to disclose
References
Marini JC, Forlino A, Bächinger HP, et al (2017) Osteogenesis imperfecta. Nat Rev Dis Primers 3:17052. https://doi.org/10.1038/nrdp.2017.52
Renaud A, Aucourt J, Weill J, et al (2013) Radiographic features of osteogenesis imperfecta. Insights Imaging 4:417–429. https://doi.org/10.1007/s13244-013-0258-4
Choksi P, Jepsen KJ, Clines GA (2018) The challenges of diagnosing osteoporosis and the limitations of currently available tools. Clinical Diabetes and Endocrinology 4:12. https://doi.org/10.1186/s40842-018-0062-7
Ralston SH, Gaston MS (2020) Management of Osteogenesis Imperfecta. Frontiers in Endocrinology
10:924. doi: 10.3389/fendo.2019.00924.
Gazzotti S, Aparisi Gómez MP, Schileo E, et al (2023)...