Osteopontin: a potential biomarker of Gaucher disease

Filippo Vairo, Fernanda Sperb-Ludwig, Matheus Wilke, Kristiane Michellin-Tirelli, Cristina Netto, Eurico Camargo Neto, Ida Schwartz

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


Gaucher disease (GD) is one of the most prevalent lysosomal storage disorders and the disorder that has the greatest immune system involvement. Pathologic lipid accumulation in macrophages accounts for a small amount of the additional tissue mass in the liver and spleen. The additional increase may be related to an inflammatory response because Gaucher cells secrete inflammatory mediators. Osteopontin (OPN) is a protein identified in cancer cells and in bone cells that is produced by several types of immune cells including T-cells and macrophages. We report here elevated OPN levels in the plasma of type 1 GD patients and its sensitive response to enzyme replacement therapy. The mean OPN value of GD patients receiving ERT was similar to the values of controls and patients with other lysosomal disorders. When comparing untreated and treated GD patients, the p value was <0.001. In GD, OPN appears to be more sensitive to ERT than chitotriosidase and can be used during the follow-up of patients who are chitotriosidase deficient. Additional extended studies are required to relate variations in the OPN levels to clinical findings and response to therapy in GD patients.

Original languageEnglish (US)
Pages (from-to)1119-1125
Number of pages7
JournalAnnals of hematology
Issue number7
StatePublished - Jul 18 2015


  • Biomarkers
  • Gaucher disease
  • Glucocerebrosidase deficiency
  • Osteopontin

ASJC Scopus subject areas

  • Hematology


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