title: An overview on bone manifestations in Gaucher disease.
abstract: Gaucher disease (GD), the most prevalent lysosomal storage disorder, affects multiple organ systems. Patients with non-neuronopathic (type 1) GD, the most common form of GD, present with hepatomegaly, splenomegaly, anemia, bleeding tendencies, thrombocytopenia, skeletal pathologies, growth retardation, and, in severe cases, pulmonary disease. The bone manifestations include bone infarcts, avascular bone necrosis, lytic lesions, osteosclerosis, fractures due to osteopenia or osteoporosis, and rarely acute osteomyelitis. Bone pain of varying intensity, fractures, and progressive joint collapses may cause impaired mobility and performances status, and increased morbidity. Enzyme replacement therapy and substrate reduction therapy have demonstrated to have beneficial effects on bone pain, bone crises, and the extent of osteoporosis. This review article gives an overview of the clinical appearance of bone pathology in GD, the possible pathophysiological mechanisms, diagnostic approaches, and the therapeutic effects of enzyme replacement therapy, substrate reduction therapy, and bone specific therapies as evaluated in current literature.
authors.affiliation: Department of Internal Medicine I, State Hospital Klagenfurt, Klagenfurt, Austria. peter.mikosch@tele2.at
authors.forename: Peter
authors.initials: P
authors.lastname: Mikosch
authors.forename: Derralynn
authors.initials: D
authors.lastname: Hughes
mesh_terms: D001706:Biopsy; D050071:Bone Density Conservation Agents / Q000627:therapeutic use; D001847:Bone Diseases / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy; D001842:Bone and Bones / Q000473:pathology / Q000503:physiopathology; D003131:Combined Modality Therapy; D016207:Cytokines / Q000097:blood; D003937:Diagnosis, Differential; D004164:Diphosphonates / Q000627:therapeutic use; D056947:Enzyme Replacement Therapy; D005776:Gaucher Disease / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D008279:Magnetic Resonance Imaging; D051346:Mobility Limitation; D010019:Osteomyelitis / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D010020:Osteonecrosis / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D010024:Osteoporosis / Q000175:diagnosis / Q000503:physiopathology / Q000628:therapy; D011788:Quality of Life; D013122:Spinal Diseases / Q000503:physiopathology*; D013131:Spine / Q000473:pathology / Q000503:physiopathology
chemical_list: D050071:Bone Density Conservation Agents; D016207:Cytokines; D004164:Diphosphonates