Imaging Skeletal Involvement in Gaucher Disease

Bone complications are an important determinant of the quality of life of patients with Gaucher disease [1]; as skeletal involvement does not always correlate with the severity of organ involvement, careful monitoring of this compartment is imperative. The reported percentage of patients with bone involvement varies based on its definition; for example, an International Gaucher Disease Registry report by Charrow et al. established that 706 out of 755 (94%) patients had radiologic evidence of one or more manifestations of bone disease, yet 361 out of 512 (71%) patients had a history of severe radiologic bone disease [2]. The prevention of bone complications is an important goal of treatment of patients with Gaucher disease. Bone complications may include atypical bone pain, bone crises, pathological fractures, vertebral collapse, avascular necrosis and osteomyelitis. In addition, osteopenia, osteoporosis and Erlenmeyer flask deformity have been reported [3]. Whereas osteopenia and osteoporosis are thought to be associated with an increased risk of bone complications such as fractures [4], the clinical relevance of the Erlenmeyer flask deformity is unknown.