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Markers of bone turnover in Gaucher disease: modeling the evolution of bone disease

By L. van Dussen, P. Lips, V. E. Everts, N. Bravenboer, I.D.C. Jansen, J.E.M. Groener, M. Maas, J.A.K. Blokland, J.M.F.G. Aerts and C.E.M. Hollak

Abstract

Context: Gaucher disease (GD) is a lysosomal storage disorder characterized by abundant presence of macrophages. Bone complications and low bone density are believed to arise from enhanced bone resorption mediated through macrophage-derived factors. Objective: The objective of the study was to investigate the relationship between bone turnover and bone complications in GD. Design: This was a retrospective cohort study and review of the literature. Patients: Forty adult type I GD patients were included in the study. Outcome Measures: Levels of the bone-resorption marker, type 1 collagen C-terminal telopeptide, and two bone-formation markers, N-terminal propeptide of type 1 procollagen and osteocalcin, were investigated in relation to clinical bone disease, measures of overall disease severity, and imaging data representing bone marrow infiltration. Results: Osteocalcin was decreased in 50% of our patients (median 0.35 nmol/liter, normal 0.4-4.0), indicating a decrease of bone formation. Type 1 collagen C-terminal telopeptide and N-terminal propeptide of type 1 procollagen were within the normal range for most patients. Osteocalcin concentration was negatively correlated to measures of overall disease severity and positively correlated with imaging data (correlation coefficient 0.423; P = 0.025), suggesting a relation with disease severity. A review of the literature revealed variable outcomes on bone resorption markers but more consistent abnormalities in bone formation markers. Two of three reports conclude that bone-formation parameters increase in response to enzyme therapy, but none describes an effect on bone-resorption markers. Conclusions: In contrast to earlier hypotheses, we propose that in GD patients, primarily a decrease in bone formation causes an imbalance in bone remodeling

Year: 2011
DOI identifier: 10.1210/jc.2011-0162
OAI identifier:
Provided by: NARCIS
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