Biomarkers for osteonecrosis in Gaucher disease

The search for surrogate biomarkers of osteonecrosis, a disabling complication of Gaucher disease, has intensified in the last decade. Biomarkers that predict osteonecrosis and monitor the effectiveness of therapies would improve clinical practice and enrich the molecular exploration of this disorder.

Here we discuss advances in biomarker research with special reference to those biomarkers associated with Gaucher disease and investigated in the context of enzyme therapy. Much progress has been made in the diversification of treatment for the condition and several biomarker molecules, which may ultimately improve risk assessment for osteonecrosis, have been identified.

The discovery of prospective biomarkers of osteonecrosis such as CCL18/PARC, CXCL8/IL-8, CCL5/RANTES, CCL3/MIP-1α, CCL4/MIP-1β, particularly during recurrent episodes occurring despite enzyme treatment, has the potential radically to change practices in the management of Gaucher disease and should improve therapeutic monitoring and prognostic evaluation. Ultimately, exploration of this field will provide the basis for a refined mechanistic understanding of pathogenesis.