Calcified Tissue International

, Volume 95, Issue 2, pp 141–152

Increased Trabecular Volumetric Bone Mass Density in Familial Hypocalciuric Hypercalcemia (FHH) Type 1: A Cross-Sectional Study

Authors

  • Niels Frederik Breum Jakobsen
    • Department of Endocrinology and Internal MedicineAarhus University Hospital
  • Lars Rolighed
    • Department of Surgery PAarhus University Hospital
  • Emil Moser
    • Department of Endocrinology and Internal MedicineAarhus University Hospital
  • Peter H. Nissen
    • Department of Clinical BiochemistryAarhus University Hospital
  • Leif Mosekilde
    • Department of Endocrinology and Internal MedicineAarhus University Hospital
    • Department of Endocrinology and Internal MedicineAarhus University Hospital
Original Research

DOI: 10.1007/s00223-014-9877-0

Cite this article as:
Jakobsen, N.F.B., Rolighed, L., Moser, E. et al. Calcif Tissue Int (2014) 95: 141. doi:10.1007/s00223-014-9877-0

Abstract

Familial Hypocalciuric Hypercalcaemia (FHH) Type 1 is caused by an inactivating mutation in the calcium-sensing receptor (CASR) gene resulting in elevated plasma calcium levels. We investigated whether FHH is associated with change in bone density and structure. We compared 50 FHH patients with age- and gender-matched population-based controls (mean age 56 years, 69 % females). We assessed areal BMD (aBMD) by DXA-scans and total, cortical, and trabecular volumetric BMD (vBMD) as well as bone geometry by quantitative computed tomography (QCT) and High-Resolution peripheral-QCT (HR-pQCT). Compared with controls, FHH females had a higher total and trabecular hip vBMD and a lower cortical vBMD and hip bone volume. Areal BMD and HRpQCT indices did not differ except an increased trabecular thickness and an increased vBMD at the transition zone between cancellous and cortical bone in of the tibia in FHH. Finite element analyses showed no differences in bone strength. Multiple regression analyses revealed correlations between vBMD and P-Ca2+ levels but not with P-PTH. Overall, bone health does not seem to be impaired in patients with FHH. In FHH females, bone volume is decreased, with a lower trabecular volume but a higher vBMD, whereas cortical vBMD is decreased in the hip. This may be due to either an impaired endosteal resorption or corticalization of trabecular bone. The smaller total bone volume suggests an impaired periosteal accrual, but bone strength is not impaired. The findings of more pronounced changes in females may suggest an interaction between sex hormones and the activity of the CaSR on bone.

Keywords

HypercalcemiaParathyroid hormoneBone densityHRpQCTDXAFamilial hypocalciuric hypercalcemia

Copyright information

© Springer Science+Business Media New York 2014