Pancytopenia, hepatosplenomegaly and skeletal complications are hallmarks of Gaucher disease. Monitoring of the outcome of therapy on skeletal status of Gaucher patients is problematic since currently available imaging techniques are expensive and not widely accessible. The availability of a blood test that relates to skeletal manifestations would be very valuable. We here report that macrophage inflammatory protein (MIP)-1α and MIP-1β, both implicated in skeletal complications in multiple myeloma (MM), are significantly elevated in plasma of Gaucher patients. Plasma MIP-1α of patients (median 78 pg/ml, range 21-550 pg/ml, n = 48) is elevated (normal median 9 pg/ml, range 0-208 pg/ml, n = 39). Plasma MIP-1β of patients (median 201 pg/ml, range 59-647 pg/ml, n = 49) is even more pronouncedly increased (normal median 17 pg/ml, range 1-41 pg/ml, n = 39; one outlier: 122 pg/ml). The increase in plasma MIP-1β levels of Gaucher patients is associated with skeletal disease. The plasma levels of both chemokines decrease upon effective therapy. Lack of reduction of plasma MIP-1β below 85 pg/ml during 5 years of therapy was observed in patients with ongoing skeletal disease. In conclusion, MIP-1α and MIP-1β are elevated in plasma of Gaucher patients and remaining high levels of MIP-1β during therapy seem associated with ongoing skeletal disease.

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Keywords Bone, Gaucher disease, MIP-1α, MIP-1β, Skeletal disease
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van Breemen, M.J., de Fost, M., Voerman, J.S., Laman, J.D., Boot, R.G., Maas, M., … Rezaee, F.. (2007). Increased plasma macrophage inflammatory protein (MIP)-1α and MIP-1β levels in type 1 Gaucher disease. Biochimica et Biophysica Acta - Molecular Basis of Disease, 1772(7), 788–796. doi:10.1016/j.bbadis.2007.04.002