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The high bone mass phenotype is characterised by a combined cortical and trabecular bone phenotype: findings from a pQCT case-control study

The high bone mass phenotype is characterised by a combined cortical and trabecular bone phenotype: findings from a pQCT case-control study
The high bone mass phenotype is characterised by a combined cortical and trabecular bone phenotype: findings from a pQCT case-control study
High bone mass (HBM), detected in 0.2% of DXA scans, is characterised by a mild skeletal dysplasia largely unexplained by known genetic mutations. We conducted the first systematic assessment of the skeletal phenotype in unexplained HBM using pQCT in our unique HBM population identified from screening routine UK NHS DXA scans.

pQCT measurements from the mid and distal tibia and radius in 98 HBM cases were compared with (i) 65 family controls (constituting unaffected relatives and spouses), and (ii) 692 general population controls.

HBM cases had substantially greater trabecular density at the distal tibia (340 [320, 359] mg/cm3), compared to both family (294 [276, 312]) and population controls (290 [281, 299]) (p < 0.001 for both, adjusted for age, gender, weight, height, alcohol, smoking, malignancy, menopause, steroid and estrogen replacement use). Similar results were obtained at the distal radius. Greater cortical bone mineral density (cBMD) was observed in HBM cases, both at the midtibia and radius (adjusted p < 0.001). Total bone area (TBA) was higher in HBM cases, at the distal and mid tibia and radius (adjusted p < 0.05 versus family controls), suggesting greater periosteal apposition. Cortical thickness was increased at the mid tibia and radius (adjusted p < 0.001), implying reduced endosteal expansion. Together, these changes resulted in greater predicted cortical strength (strength strain index [SSI]) in both tibia and radius (p < 0.001). We then examined relationships with age; tibial cBMD remained constant with increasing age amongst HBM cases (adjusted ? ? 0.01 [? 0.02, 0.01], p = 0.41), but declined in family controls (? 0.05 [? 0.03, ? 0.07], p < 0.001) interaction p = 0.002; age-related changes in tibial trabecular BMD, CBA and SSI were also divergent. In contrast, at the radius HBM cases and controls showed parallel age-related declines in cBMD and trabecular BMD.

HBM is characterised by increased trabecular BMD and by alterations in cortical bone density and structure, leading to substantial increments in predicted cortical bone strength. In contrast to the radius, neither trabecular nor cortical BMD declined with age in the tibia of HBM cases, suggesting attenuation of age-related bone loss in weight-bearing limbs contributes to the observed bone phenotype
8756-3282
380-388
Gregson, Celia L.
30fae822-e733-4e67-b11a-e46dfb1b269a
Sayers, Adrian
44df1533-c14a-48ac-a505-4949373180ae
Lazar, Victor
ee9d5f58-7f16-4fb4-af25-6a4fbe825593
Steel, Sue
4adaf9b4-171b-4f6d-8ab6-a4a556f1a36a
Dennison, Elaine M.
ee647287-edb4-4392-8361-e59fd505b1d1
Cooper, Cyrus
e05f5612-b493-4273-9b71-9e0ce32bdad6
Smith, George Davey
f5bc8327-f2cb-49a0-8eae-4a6ba63207a2
Rittweger, Jorn
72200ba3-bdfe-403e-beaf-a9bf49168c7f
Tobias, Jon H.
b41958fb-62c0-4d28-a93e-008a78681817
Gregson, Celia L.
30fae822-e733-4e67-b11a-e46dfb1b269a
Sayers, Adrian
44df1533-c14a-48ac-a505-4949373180ae
Lazar, Victor
ee9d5f58-7f16-4fb4-af25-6a4fbe825593
Steel, Sue
4adaf9b4-171b-4f6d-8ab6-a4a556f1a36a
Dennison, Elaine M.
ee647287-edb4-4392-8361-e59fd505b1d1
Cooper, Cyrus
e05f5612-b493-4273-9b71-9e0ce32bdad6
Smith, George Davey
f5bc8327-f2cb-49a0-8eae-4a6ba63207a2
Rittweger, Jorn
72200ba3-bdfe-403e-beaf-a9bf49168c7f
Tobias, Jon H.
b41958fb-62c0-4d28-a93e-008a78681817

Gregson, Celia L., Sayers, Adrian, Lazar, Victor, Steel, Sue, Dennison, Elaine M., Cooper, Cyrus, Smith, George Davey, Rittweger, Jorn and Tobias, Jon H. (2013) The high bone mass phenotype is characterised by a combined cortical and trabecular bone phenotype: findings from a pQCT case-control study. Bone, 52 (1), 380-388. (doi:10.1016/j.bone.2012.10.021,). (PMID:23103330)

Record type: Article

Abstract

High bone mass (HBM), detected in 0.2% of DXA scans, is characterised by a mild skeletal dysplasia largely unexplained by known genetic mutations. We conducted the first systematic assessment of the skeletal phenotype in unexplained HBM using pQCT in our unique HBM population identified from screening routine UK NHS DXA scans.

pQCT measurements from the mid and distal tibia and radius in 98 HBM cases were compared with (i) 65 family controls (constituting unaffected relatives and spouses), and (ii) 692 general population controls.

HBM cases had substantially greater trabecular density at the distal tibia (340 [320, 359] mg/cm3), compared to both family (294 [276, 312]) and population controls (290 [281, 299]) (p < 0.001 for both, adjusted for age, gender, weight, height, alcohol, smoking, malignancy, menopause, steroid and estrogen replacement use). Similar results were obtained at the distal radius. Greater cortical bone mineral density (cBMD) was observed in HBM cases, both at the midtibia and radius (adjusted p < 0.001). Total bone area (TBA) was higher in HBM cases, at the distal and mid tibia and radius (adjusted p < 0.05 versus family controls), suggesting greater periosteal apposition. Cortical thickness was increased at the mid tibia and radius (adjusted p < 0.001), implying reduced endosteal expansion. Together, these changes resulted in greater predicted cortical strength (strength strain index [SSI]) in both tibia and radius (p < 0.001). We then examined relationships with age; tibial cBMD remained constant with increasing age amongst HBM cases (adjusted ? ? 0.01 [? 0.02, 0.01], p = 0.41), but declined in family controls (? 0.05 [? 0.03, ? 0.07], p < 0.001) interaction p = 0.002; age-related changes in tibial trabecular BMD, CBA and SSI were also divergent. In contrast, at the radius HBM cases and controls showed parallel age-related declines in cBMD and trabecular BMD.

HBM is characterised by increased trabecular BMD and by alterations in cortical bone density and structure, leading to substantial increments in predicted cortical bone strength. In contrast to the radius, neither trabecular nor cortical BMD declined with age in the tibia of HBM cases, suggesting attenuation of age-related bone loss in weight-bearing limbs contributes to the observed bone phenotype

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Published date: January 2013
Organisations: Faculty of Medicine, Faculty of Health Sciences

Identifiers

Local EPrints ID: 348181
URI: http://eprints.soton.ac.uk/id/eprint/348181
ISSN: 8756-3282
PURE UUID: bb573550-dd56-4c5e-8e8a-b6affbeaa96d
ORCID for Elaine M. Dennison: ORCID iD orcid.org/0000-0002-3048-4961
ORCID for Cyrus Cooper: ORCID iD orcid.org/0000-0003-3510-0709

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Date deposited: 08 Feb 2013 11:22
Last modified: 18 Feb 2021 16:48

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