The aim of the study is to describe patients with a high bone mass phenotype due to a mutation in the low density lipoprotein l receptor 5 gene (LRP5) and compare them with age and sex matched controls. Moreover, bone density and microarchitecture as well as markers of bone metabolism are evaluated
Cases and controls are closely matched on age and sex and evaluated cross-sectionally. Dual x-ray absorptiometry (DXA) and high resolution peripheral quantitative computed tomography (HR-pQCT) are used in order to evaluate bone density as well as microarchitecture. Bone turnover markers and body composition are also measured.
Study Type
OBSERVATIONAL
Enrollment
38
Odense University Hospital, Osteoporosis Clinic
Odense, Denmark
Bone microarchitecture as assessed by high resolution quantitative computed tomography (HR-pQCT)
HR-pQCT is used to evaluate bone microarchitecture, i.e. bone trabeculae, cortical thickness and trabecular number. Aim is to test if the microarchitecture of these patients are different that observed in normal controls
Time frame: 12 weeks
Changes in bone turnover markers
Markers of bone resorption and formation are investigated.
Time frame: 12 weeks
Bone mineral density
DXA is used to evaluate bone mineral density at total hip, spine, whole body and forearm.
Time frame: 12 weeks
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