SUMMARY: 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
|Translated title of the contribution||'Sink or swim': an evaluation of the clinical characteristics of individuals with high bone mass|
|Pages (from-to)||643 - 654|
|Number of pages||11|
|Publication status||Published - 1 Feb 2012|
Title of Publication Reviewed: 'Sink or swim': an evaluation of the clinical characteristics of individuals with high bone mass
Author of Publication Reviewed: Gregson CL, Steel SA, O'Rourke KP, Allan K, Ayuk J, Bhalla A, Clunie G, Crabtree N, Fogelman I, Goodby A, Langman CM, Linton S, Marriott E, McCloskey E, Moss KE, Palferman T, Panthakalam S, Poole KE, Stone MD, Turton J, Wallis D, Warburton S, Wass J, Duncan EL, Brown MA, Davey-Smith G, Tobias JH
Other identifier: Epub 2011 Apr 1
Other: PMID: 21455762