Management of Bone Disease in Gaucher Disease Type 1: Clinical Practice

Gaetano Giuffrida, Maria Domenica Cappellini, Francesca Carubbi, Maja Di Rocco, Giovanni Iolascon

Research output: Contribution to journalArticlepeer-review


Gaucher disease is a rare autosomal recessive disorder of glycosphingolipid metabolism resulting from deficient activity of the lysosomal enzyme beta-glucocerebrosidase that causes accumulation of glucosylceramide in tissue macrophage with damage to hematological, visceral, and skeletal organ systems. Severity and progression may vary independently among these domains, necessitating individualized therapy. Skeletal involvement is highly prevalent and often associated with intense pain, impaired mobility, and reduced quality of life. Enzyme replacement therapy improves parameters in all affected domains, but skeletal involvement requires longer treatment and higher dosages to obtain significant results. Despite numerous papers on bone complications in patients with Gaucher disease, there are no specific indications on how to assess properly bone involvement in such condition, the frequency of assessment, the use of markers for osteoblast and osteoclast activity, or the administration of bisphosphonates or other symptomatic drugs in adult and pediatric patients. Starting from a re-evaluation of cases with bone involvement, we have identified some common errors in the diagnostic approach and management. The aim of this paper was to propose a methodological and critical approach to the diagnosis, follow-up and treatment of bone disease in patients with Gaucher disease type 1.

Original languageEnglish
Pages (from-to)1197-1212
Number of pages16
JournalAdvances in Therapy
Issue number12
Publication statusPublished - Dec 19 2014


  • Bone
  • Dual energy X-ray absorptiometry
  • Gaucher disease
  • Magnetic resonance imaging
  • MRI
  • Skeletal disease

ASJC Scopus subject areas

  • Pharmacology (medical)
  • Medicine(all)


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