Gaucher disease and bone

Gaucher disease (GD) is an inherited lysosomal storage disorder affecting multiple organs. Non-neuronopathic GD, the most common form, can present with hepatosplenomegaly, anaemia, bleeding tendencies, thrombocytopenia, skeletal pathologies, growth retardation and, in severe cases, with pulmonary disease. The bone manifestations include bone infarcts, avascular bone necrosis, lytic lesions, osteosclerosis, fractures due to osteoporosis and, rarely, acute osteomyelitis. Bone pain of varying intensity, fractures and joint collapses increase the patients’ morbidity and impair their mobility and quality of life.Currently available therapies – enzyme replacement therapy and substrate reduction therapy – have shown to improve blood count and the visceral manifestations within a short time. Beneficial effects have also been documented on bone pain, bone crises and the extent of osteoporosis.The article focusses on the bone pathologies of GD including its pathophysiology, current diagnostics, clinical management and therapeutic effects of enzyme replacement therapy, substrate reduction therapy and bone-specific therapies.