[Osteoarticular manifestations of Gaucher disease in adults: pathophysiology and treatment]

Abstract

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.