John Libbey Eurotext



Medical supervision of Gaucher disease: a pluridisciplinarity approach Volume 15, issue 4, juillet-août 2009


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Service d’hématologie clinique, institut de cancérologie et d’hématologie, CHU de Brest, 2, avenue Foch, bâtiment 3, 29200 Brest, France, Service d’hématologie biologique CHU de Brest, 2, avenue Foch, 29609 Brest, France

Macrophage glucocerebrosidase lysosomal enzymatic activity is critical for degradation of glucosylceramide which represents an important constituent of biological membranes, especially from erythrocytes. When glucocerebrosidase activity is lacking, crystallized glucosylceramide accumulates into macrophages identified as Gaucher cells. Accumulated long-lived bone marrow macrophages induces avascular medullary and bone damages, bone pain and bone crisis related to avascular necrosis and bone infarcts. Activated osteoclasts lead to osteopenia and osteoporosis. Bone lesions alter quality of life. Activated macrophages, CCL18+, can induce chitotriosidase-dependent lymphocyte B activation and risk of lymphoproliferation and monoclonal gammopathies occuring in 15% of patients. Increased risk of multiple myeloma is of concern. After patient assessment, the recombinant form of glucocerebrosidase, imiglucerase, has a powerful biological activity, is directed to obtain cure of symptom(s), improvement of well-being and prevention of irreversible tissue damage.