Bone marker alterations in patients with type 1 Gaucher disease

G. Ciana, C. Martini, A. Leopaldi, G. Tamaro, F. Katouzian, L. Ronfani, B. Bembi

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Bone involvement is one of the most disabling aspects of type I Gaucher disease and its pathophysiology is still not well understood. As an invasive procedure, bone biopsies are not appropriate in a large population study. The development of sensitive bone resorption and formation tests have allowed the authors to study bone metabolism in a noninvasive manner in a group of type 1 Gaucher patients. Ten type I Gaucher adult patients with mild-to-severe bone disease were evaluated. Bone mineral density and markers of bone formation (total alkaline phosphatase and isoenzymes, carboxyterminal propeptide of type I procollagen, osteocalcin) and resorption (carboxyterminal telopeptide of type I collagen, urinary hydroxyproline, free-deoxypyridinoline and calcium) were measured in patients and in a control group, matched for sex and age. In Gaucher patients, carboxyterminal propeptide of type I procollagen (PICP), a bone formation index, was significantly lower compared with normal subjects (mean 101.17 ng/ml vs 140.75 ng/ml, P = 0.038), and analysis of bone resorption indexes showed a significant increase (mean 4.24 ng/ml vs 2.87 ng/ml, P = 0.012) of serum carboxyterminal telopeptide of type I collagen (ICTP). No significant differences were observed in osteocalcin, alkaline phosphatase, and urinary hydroxyproline. Bone mineral density revealed osteopenia in six patients, with a mean Z-score of -1.04. It was not possible to show a relationship between sex, splenectomy status, age, weight, spleen, and liver volume and bone density, expressed as a Z-score nor a correlation between Z score and severity of skeletal disease. Results have shown a predominance of the resorption phase in the bone metabolism of Gaucher patients. These markers could be useful in monitoring the effect of enzyme replacement therapy on Gaucher disease skeletal involvement.

Original languageEnglish
Pages (from-to)185-189
Number of pages5
JournalCalcified Tissue International
Issue number3
Publication statusPublished - Mar 1 2003


  • Bone markers
  • Carboxyterminal propeptide of type I procollagen
  • Collagen
  • Gaucher's disease
  • Skeletal involvement

ASJC Scopus subject areas

  • Endocrinology


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