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

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, C.E.M. Hollak

Research output: Contribution to JournalArticleAcademicpeer-review


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.

Original languageEnglish
Pages (from-to)2194-2205
JournalJournal of Clinical Endocrinology and Metabolism
Issue number7
Publication statusPublished - 2011


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