11 Skeletal involvement in Gaucher's disease

Abstract

Perhaps the most variable of all the symptoms attributed to Gaucher's disease is that of bone involvement, both in the Type 1 and Type 3 forms of the disease. Expression of skeletal involvement in Gaucher patients ranges from asymptomatic disease, with or without radiological signs, to symptomatic disease, which can be severe and engender considerable pain and disability. Herein we discuss the imaging techniques currently available to document the presence and progression of bone involvement as well as the various forms of medical and surgical management that are employed to help the Gaucher patient cope with skeletal disease.