Levels of serotonin, sclerostin, bone turnover markers as well as bone density and microarchitecture in patients with high bone mass phenotype due to a mutation in Lrp5

Morten Frost Nielsen, Tom E. Andersen, F Gossiel, S Hansen, J Bollerslev, W Van Hul, R Eastell, M Kassem, K Brixen

Research output: Contribution to journalJournal articleResearchpeer-review


CONTEXT: Patients with an activation mutation of the Lrp5 gene exhibit high bone mass (HBM). Limited information is available regarding compartment specific changes in bone. The relationship between the phenotype and serum serotonin is not well documented. Objective: to evaluate bone, serotonin and bone turnover markers (BTM) in Lrp5-HBM patients. DESIGN: We studied 19 Lrp5-HBM patients (T253I) and 19 age- and sex-matched controls. DXA and HR-pQCT were used to assess BMD and bone structure. Serum serotonin, sclerostin, DKK1 and BTM were evaluated. RESULTS: Z-scores for the forearm, total hip, lumbar spine, forearm and whole body were significantly increased (mean ± SD) between 4.94 ± 1.45 and 7.52 ± 1.99 in cases as compared to -0.19 ± 1.19 to 0.58 ± 0.84 in controls. Tibial and radial cortical areas, thicknesses and BMD were significantly higher in cases. In cases, BMD at the lumbar spine and forearm and cortical thickness were positively and trabecular area negatively associated with age (r =0.49, 0.57, 0.74 and -0.61, respectively, p 
Original languageEnglish
JournalJournal of Bone and Mineral Research
Issue number8
Pages (from-to)1721-1728
Number of pages8
Publication statusPublished - 2011


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