[Osteoarticular manifestations of Gaucher disease in adults: pathophysiology and treatment].
Gaucher disease frequently has severe osteoarticular manifestations that may be disabling. Ischemic phenomena cause the most serious complications and lead to irreversible lesions. Aseptic osteonecrosis of the hip is the most disabling complication; it causes intense early bone pain and often joint collapse and secondary osteoarthritis in young adults. Localized or systemic bone fragility explains osteopenia, osteoporosis, and fractures (vertebral collapse with irreversible kyphosis causing chronic morbidity). Although no double-blind randomized studies have assessed the bone effects of enzyme replacement therapy, it has been shown effective in reducing bone pain in about half of all treatment-naive patients within 1 to 2 years and in improving bone mineral density after 3 years. In open-label trials, substrate reduction therapy (miglustat) reduced both bone pain and bone marrow infiltration. Specific treatment for bone fragility, with bisphosphonates for example, should be considered after rigorous individualized evaluation and assessment of other risk factors.
Javier
Rose-Marie
RM
Service de Rhumatologie, Hôpital de Hautepierre, Avenue Molière, Strasbourg, France. Rose-marie.Javier@chru-strasbourg.fr
Hachulla
Eric
E
D017485:1-Deoxynojirimycin / Q000008:administration & dosage / Q000031:analogs & derivatives* / Q000627:therapeutic use; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015519:Bone Density; D001847:Bone Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000209:etiology* / Q000503:physiopathology; D001851:Bone Diseases, Metabolic / Q000188:drug therapy / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D002986:Clinical Trials as Topic; D004164:Diphosphonates / Q000627:therapeutic use; D004791:Enzyme Inhibitors / Q000627:therapeutic use*; D050723:Fractures, Bone / Q000209:etiology; D005776:Gaucher Disease / Q000150:complications* / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000008:administration & dosage / Q000627:therapeutic use*; D065089:Glycoside Hydrolase Inhibitors; D006801:Humans; D007592:Joint Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000209:etiology* / Q000503:physiopathology / Q000628:therapy; D007738:Kyphosis / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D010003:Osteoarthritis / Q000209:etiology / Q000503:physiopathology; D010020:Osteonecrosis / Q000209:etiology; D010024:Osteoporosis / Q000188:drug therapy / Q000209:etiology; D011877:Radionuclide Imaging; D016103:Spinal Fractures / Q000209:etiology; D014057:Tomography, X-Ray Computed
D004164:Diphosphonates; D004791:Enzyme Inhibitors; D065089:Glycoside Hydrolase Inhibitors; D017485:1-Deoxynojirimycin; C059896:miglustat; D005962:Glucosylceramidase; C090568:imiglucerase