LAUSR

Gaucher disease, the most common of the lysosomal storage diseases, is a systematic familial disease classified in “orphan diseases’’, a group of rare disorders with prevalence of 1:50,000 or lower in the general population. Gaucher disease results from mutations that impair the enzymatic activity of a lysosomal hydrolase called β-glucocerebrosidase and leads to the accumulation of glucocerebroside, its substrate, in the lysosomes of the macrophage/monocyte system. Macrophages are transformed to Gaucher cells by glucocerebroside accumulation which represent atypical activated macrophages that infiltrate various organs and secrete an array of pro-inflammatory cytokines. This results in organomegally and cytopenias in the peripheral blood due to hypersplenism and infiltration of the bone marrow by Gaucher cells. Cytokines exctreted by Gaucher cells are in the basis of bone pathology. Osteopenia, osteoporosis, painful bone crises, pathologic fractures, and osteonecrosis are the most common manifestations of osseous Gaucher disease. This disease is classified in three types based on CNS involvement and rate of progression. Therapy consists of β-glucocerebrosidase substitution and substrate reduction therapy. *Correspondence to: Georgios I. Panoutsopoulos, Director of Laboratory of Physiology-Pharmacology, Department of Nursing, Faculty of Human Movement and Quality of Life Sciences, University of Peloponnese, Efstathiou & Stamatikis Valioti and Plateon, Sparta 23100, Greece, E-mail: [email protected]