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Management of bone disease in Gaucher disease type 1: clinical practice
- Source :
- Advances in therapy. 31(12)
- Publication Year :
- 2014
-
Abstract
- Gaucher disease is a rare autosomal recessive disorder of glycosphingolipid metabolism resulting from deficient activity of the lysosomal enzyme beta-glucocerebrosidase that causes accumulation of glucosylceramide in tissue macrophage with damage to hematological, visceral, and skeletal organ systems. Severity and progression may vary independently among these domains, necessitating individualized therapy. Skeletal involvement is highly prevalent and often associated with intense pain, impaired mobility, and reduced quality of life. Enzyme replacement therapy improves parameters in all affected domains, but skeletal involvement requires longer treatment and higher dosages to obtain significant results. Despite numerous papers on bone complications in patients with Gaucher disease, there are no specific indications on how to assess properly bone involvement in such condition, the frequency of assessment, the use of markers for osteoblast and osteoclast activity, or the administration of bisphosphonates or other symptomatic drugs in adult and pediatric patients. Starting from a re-evaluation of cases with bone involvement, we have identified some common errors in the diagnostic approach and management. The aim of this paper was to propose a methodological and critical approach to the diagnosis, follow-up and treatment of bone disease in patients with Gaucher disease type 1.
- Subjects :
- Adult
medicine.medical_specialty
Pathology
Bone density
Bone disease
Gaucher disease
Disease
Bioinformatics
Dual energy X-ray absorptiometry
Absorptiometry, Photon
Skeletal disease
Osteoclast
Bone Density
Internal medicine
Magnetic resonance imaging MRI
Medicine
Humans
Pharmacology (medical)
Enzyme Replacement Therapy
Bone
Child
Dual-energy X-ray absorptiometry
Monitoring, Physiologic
Gaucher Disease
medicine.diagnostic_test
Bone Density Conservation Agents
Diphosphonates
business.industry
Disease Management
Osteoblast
General Medicine
Enzyme replacement therapy
medicine.disease
Rheumatology
medicine.anatomical_structure
Bone, Gaucher disease, Dual energy X-ray absorptiometry, Magnetic resonance imaging MRI, Skeletal disease
Glucosylceramidase
Bone Diseases
business
Biomarkers
Subjects
Details
- ISSN :
- 18658652
- Volume :
- 31
- Issue :
- 12
- Database :
- OpenAIRE
- Journal :
- Advances in therapy
- Accession number :
- edsair.doi.dedup.....b3f1167bf97e1a0a4fb4c453ed92dc77