van Dussen L, Lips P, Everts VE et al.
Academic Medical Center, Amsterdam, The Netherlands.
J Clin Endocrinol Metab 2011;96:2194–205.
Editor’s note: This is a report of a retrospective study in 40 adults with type 1 Gaucher disease (GD1) in which the levels of various markers of bone turnover were examined. Bone complications are a prominent feature of GD, and patients with the disease have a suboptimal response to enzyme replacement therapy (ERT). A conventional view is that macrophage-mediated osteoclastic bone resorption is increased in GD patients, which leads to accelerated bone turnover; bisphosphonate therapy inhibits this process and is generally considered a valuable adjunct to ERT for the treatment of bone complications. In this study, the investigators measured three key biochemical markers: type 1 collagen C-terminal telopeptide (CTX), which is a marker of bone resorption, and two markers of bone formation, N-terminal propeptide of type 1 procollagen (P1NP) and osteocalcin. The measurements were investigated in relation to overall measurements of clinical disease severity, bone complications, and imaging data.