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An overview on bone manifestations in Gaucher disease.
- Source :
-
Wiener medizinische Wochenschrift (1946) [Wien Med Wochenschr] 2010 Dec; Vol. 160 (23-24), pp. 609-24. - Publication Year :
- 2010
-
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.
- Subjects :
- Biopsy
Bone Density Conservation Agents therapeutic use
Bone Diseases physiopathology
Bone Diseases therapy
Bone and Bones pathology
Bone and Bones physiopathology
Combined Modality Therapy
Cytokines blood
Diagnosis, Differential
Diphosphonates therapeutic use
Enzyme Replacement Therapy
Gaucher Disease physiopathology
Gaucher Disease therapy
Humans
Magnetic Resonance Imaging
Mobility Limitation
Osteomyelitis diagnosis
Osteomyelitis physiopathology
Osteomyelitis therapy
Osteonecrosis diagnosis
Osteonecrosis physiopathology
Osteonecrosis therapy
Osteoporosis diagnosis
Osteoporosis physiopathology
Osteoporosis therapy
Quality of Life
Spine pathology
Spine physiopathology
Bone Diseases diagnosis
Gaucher Disease diagnosis
Spinal Diseases physiopathology
Subjects
Details
- Language :
- English
- ISSN :
- 1563-258X
- Volume :
- 160
- Issue :
- 23-24
- Database :
- MEDLINE
- Journal :
- Wiener medizinische Wochenschrift (1946)
- Publication Type :
- Academic Journal
- Accession number :
- 21221913
- Full Text :
- https://doi.org/10.1007/s10354-010-0841-y