Manifestations osseuses de la maladie de Gaucher

Abstract

Gaucher disease is a rare, multi-system disease caused by a genetic deficiency of lysosomal glucocerebrosidase. Glucocerebroside accumulates in cells of the reticuloendothelial system leading to chronic macrophage activation, bone marrow infiltration, organ enlargement (liver and spleen), and cytopenia. Skeletal manifestations are often the most striking and disabling long-term consequence of Gaucher disease type 1; clinical or radiographic evidence of bone disease has been reported in 70–100% of diagnosed patients. Avascular osteonecrosis of the hip is the most disabling complication with early bone pain and often joint collapse and secondary osteoarthritis needing orthopaedic interventions in young adults. Localized or systemic bone fragility explains osteopenia, osteoporosis and fractures. Although no double-blind randomized studies have been performed to evaluate bone effect of the treatments, enzyme replacement therapy has demonstrate its efficacy in naïve patients reducing bone pain in about 50% of patients within 1 to 2 years, improving bone mineral density after at least 3 years of treatment. Substrate reduction therapy is an alternative treatment approach. Specific treatment of bone fragility needs a rigorous evaluation with assessment of other risk factors.