'Sink or swim': an evaluation of the clinical characteristics of individuals with high bone mass.

Hdl Handle:
http://hdl.handle.net/10147/127225
Title:
'Sink or swim': an evaluation of the clinical characteristics of individuals with high bone mass.
Authors:
Gregson, C L; Steel, S A; O'Rourke, K P; Allan, K; Ayuk, J; Bhalla, A; Clunie, G; Crabtree, N; Fogelman, I; Goodby, A; Langman, C M; Linton, S; Marriott, E; McCloskey, E; Moss, K E; Palferman, T; Panthakalam, S; Poole, K E S; Stone, M D; Turton, J; Wallis, D; Warburton, S; Wass, J; Duncan, E L; Brown, M A; Davey-Smith, G; Tobias, J H
Affiliation:
Musculoskeletal Research Unit, University of Bristol, Bristol, UK, celia.gregson@bristol.ac.uk.
Citation:
'Sink or swim': an evaluation of the clinical characteristics of individuals with high bone mass. 2011:notOsteoporos Int
Journal:
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
Issue Date:
1-Apr-2011
URI:
http://hdl.handle.net/10147/127225
DOI:
10.1007/s00198-011-1603-4
PubMed ID:
21455762
Abstract:
High bone mineral density on routine dual energy X-ray absorptiometry (DXA) may indicate an underlying skeletal dysplasia. Two hundred fifty-eight individuals with unexplained high bone mass (HBM), 236 relatives (41% with HBM) and 58 spouses were studied. Cases could not float, had mandible enlargement, extra bone, broad frames, larger shoe sizes and increased body mass index (BMI). HBM cases may harbour an underlying genetic disorder. INTRODUCTION: High bone mineral density is a sporadic incidental finding on routine DXA scanning of apparently asymptomatic individuals. Such individuals may have an underlying skeletal dysplasia, as seen in LRP5 mutations. We aimed to characterize unexplained HBM and determine the potential for an underlying skeletal dysplasia. METHODS: Two hundred fifty-eight individuals with unexplained HBM (defined as L1 Z-score ≥ +3.2 plus total hip Z-score ≥ +1.2, or total hip Z-score ≥ +3.2) were recruited from 15 UK centres, by screening 335,115 DXA scans. Unexplained HBM affected 0.181% of DXA scans. Next 236 relatives were recruited of whom 94 (41%) had HBM (defined as L1 Z-score + total hip Z-score ≥ +3.2). Fifty-eight spouses were also recruited together with the unaffected relatives as controls. Phenotypes of cases and controls, obtained from clinical assessment, were compared using random-effects linear and logistic regression models, clustered by family, adjusted for confounders, including age and sex. RESULTS: Individuals with unexplained HBM had an excess of sinking when swimming (7.11 [3.65, 13.84], p < 0.001; adjusted odds ratio with 95% confidence interval shown), mandible enlargement (4.16 [2.34, 7.39], p < 0.001), extra bone at tendon/ligament insertions (2.07 [1.13, 3.78], p = 0.018) and broad frame (3.55 [2.12, 5.95], p < 0.001). HBM cases also had a larger shoe size (mean difference 0.4 [0.1, 0.7] UK sizes, p = 0.009) and increased BMI (mean difference 2.2 [1.3, 3.1] kg/m(2), p < 0.001). CONCLUSION: Individuals with unexplained HBM have an excess of clinical characteristics associated with skeletal dysplasia and their relatives are commonly affected, suggesting many may harbour an underlying genetic disorder affecting bone mass.
Item Type:
Article In Press
ISSN:
1433-2965

Full metadata record

DC FieldValue Language
dc.contributor.authorGregson, C Len
dc.contributor.authorSteel, S Aen
dc.contributor.authorO'Rourke, K Pen
dc.contributor.authorAllan, Ken
dc.contributor.authorAyuk, Jen
dc.contributor.authorBhalla, Aen
dc.contributor.authorClunie, Gen
dc.contributor.authorCrabtree, Nen
dc.contributor.authorFogelman, Ien
dc.contributor.authorGoodby, Aen
dc.contributor.authorLangman, C Men
dc.contributor.authorLinton, Sen
dc.contributor.authorMarriott, Een
dc.contributor.authorMcCloskey, Een
dc.contributor.authorMoss, K Een
dc.contributor.authorPalferman, Ten
dc.contributor.authorPanthakalam, Sen
dc.contributor.authorPoole, K E Sen
dc.contributor.authorStone, M Den
dc.contributor.authorTurton, Jen
dc.contributor.authorWallis, Den
dc.contributor.authorWarburton, Sen
dc.contributor.authorWass, Jen
dc.contributor.authorDuncan, E Len
dc.contributor.authorBrown, M Aen
dc.contributor.authorDavey-Smith, Gen
dc.contributor.authorTobias, J Hen
dc.date.accessioned2011-04-05T14:33:29Z-
dc.date.available2011-04-05T14:33:29Z-
dc.date.issued2011-04-01-
dc.identifier.citation'Sink or swim': an evaluation of the clinical characteristics of individuals with high bone mass. 2011:notOsteoporos Inten
dc.identifier.issn1433-2965-
dc.identifier.pmid21455762-
dc.identifier.doi10.1007/s00198-011-1603-4-
dc.identifier.urihttp://hdl.handle.net/10147/127225-
dc.description.abstractHigh bone mineral density on routine dual energy X-ray absorptiometry (DXA) may indicate an underlying skeletal dysplasia. Two hundred fifty-eight individuals with unexplained high bone mass (HBM), 236 relatives (41% with HBM) and 58 spouses were studied. Cases could not float, had mandible enlargement, extra bone, broad frames, larger shoe sizes and increased body mass index (BMI). HBM cases may harbour an underlying genetic disorder. INTRODUCTION: High bone mineral density is a sporadic incidental finding on routine DXA scanning of apparently asymptomatic individuals. Such individuals may have an underlying skeletal dysplasia, as seen in LRP5 mutations. We aimed to characterize unexplained HBM and determine the potential for an underlying skeletal dysplasia. METHODS: Two hundred fifty-eight individuals with unexplained HBM (defined as L1 Z-score ≥ +3.2 plus total hip Z-score ≥ +1.2, or total hip Z-score ≥ +3.2) were recruited from 15 UK centres, by screening 335,115 DXA scans. Unexplained HBM affected 0.181% of DXA scans. Next 236 relatives were recruited of whom 94 (41%) had HBM (defined as L1 Z-score + total hip Z-score ≥ +3.2). Fifty-eight spouses were also recruited together with the unaffected relatives as controls. Phenotypes of cases and controls, obtained from clinical assessment, were compared using random-effects linear and logistic regression models, clustered by family, adjusted for confounders, including age and sex. RESULTS: Individuals with unexplained HBM had an excess of sinking when swimming (7.11 [3.65, 13.84], p < 0.001; adjusted odds ratio with 95% confidence interval shown), mandible enlargement (4.16 [2.34, 7.39], p < 0.001), extra bone at tendon/ligament insertions (2.07 [1.13, 3.78], p = 0.018) and broad frame (3.55 [2.12, 5.95], p < 0.001). HBM cases also had a larger shoe size (mean difference 0.4 [0.1, 0.7] UK sizes, p = 0.009) and increased BMI (mean difference 2.2 [1.3, 3.1] kg/m(2), p < 0.001). CONCLUSION: Individuals with unexplained HBM have an excess of clinical characteristics associated with skeletal dysplasia and their relatives are commonly affected, suggesting many may harbour an underlying genetic disorder affecting bone mass.-
dc.languageENG-
dc.title'Sink or swim': an evaluation of the clinical characteristics of individuals with high bone mass.en
dc.typeArticle In Pressen
dc.contributor.departmentMusculoskeletal Research Unit, University of Bristol, Bristol, UK, celia.gregson@bristol.ac.uk.en
dc.identifier.journalOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USAen
dc.description.provinceLeinster-

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