STUDY OF BONE MASS AND METABOLISM IN GAUCHER DISEASE

OLIVERI BEATRIZ; PARISI MS; GOLDSTEIN G; OCHOA F

Santiago de Chile

Simposio; Simposio Latinoamericanode Enfermedades de Depósito Lisosomal; 2004

INTRODUCTION: Gaucher Disease (GD) decreased Acid -Glucosidase or Glucocerebrosidase activity produces accumulation of glucocerebrosides in the reticuloendothelial system. 80% of patients with type l GD have skeletal involvement (bone pains, bone marrow infiltration, osteopenia, pathological fractures, osteonecrosis). CONCLUSIONS: l) A significant reduction of bone mass was observed. 2) The bone remodelling parameters were altered due to an increase in bone resorption. 3) The bone mass alteration was less in patients with an ERT dose :60 UI/kg/day 4) These findings suggest the need of higher ERT doses and the importance of assessing the therapy with anti-resorption drugs as co- adjuvant to improve bone mass.