{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T17:29:09Z","timestamp":1792517349714,"version":"4.5.0"},"reference-count":123,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2024,2,10]],"date-time":"2024-02-10T00:00:00Z","timestamp":1707523200000},"content-version":"vor","delay-in-days":1715,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,6,24]],"date-time":"2019-06-24T00:00:00Z","timestamp":1561334400000},"content-version":"vor","delay-in-days":23,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Sanofi-Genzyme"}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,6,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Gaucher disease (GD) is a rare, genetic lysosomal disorder leading to lipid accumulation and dysfunction in multiple organs. Involvement of the skeleton is one of the most prevalent aspects of GD and a major cause of pain, disability, and reduced quality of life. Uniform recommendations for contemporary evaluation and management are needed. To develop practical clinical recommendations, an international group of experienced physicians conducted a comprehensive review of 20 years\u2019 of the literature, defining terms according to pathophysiological understanding and pointing out best practice and unmet needs related to the skeletal features of this disorder. Abnormalities of bone modeling, reduced bone density, bone infarction, and plasma cell dyscrasias accompany the displacement of healthy adipocytes in adult marrow. Exposure to excess bioactive glycosphingolipids appears to affect hematopoiesis and the balance of osteoblast and osteoclast numbers and activity. Imbalance between bone formation and breakdown induces disordered trabecular and cortical bone modeling, cortical bone thinning, fragility fractures, and osteolytic lesions. Regular assessment of bone mineral density, marrow infiltration, the axial skeleton and searching for potential malignancy are recommended. MRI is valuable for monitoring skeletal involvement: It provides semiquantitative assessment of marrow infiltration and the degree of bone infarction. When MRI is not available, monitoring of painful acute bone crises and osteonecrosis by plain X-ray has limited value. In adult patients, we recommend DXA of the lumbar spine and left and right hips, with careful protocols designed to exclude focal disease; serial follow-up should be done using the same standardized instrument. Skeletal health may be improved by common measures, including adequate calcium and vitamin D and management of pain and orthopedic complications. Prompt initiation of specific therapy for GD is crucial to optimizing outcomes and preventing irreversible skeletal complications. Investing in safe, clinically useful, and better predictive methods for determining bone integrity and fracture risk remains a need. \u00a9 2019 The Authors. Journal of Bone and Mineral Research Published by Wiley Periodicals Inc.<\/jats:p>","DOI":"10.1002\/jbmr.3734","type":"journal-article","created":{"date-parts":[[2019,6,25]],"date-time":"2019-06-25T11:43:11Z","timestamp":1561462991000},"page":"996-1013","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":184,"title":["Gaucher Disease in Bone: From Pathophysiology to Practice"],"prefix":"10.1093","volume":"34","author":[{"given":"Derralynn","family":"Hughes","sequence":"first","affiliation":[{"name":"Royal Free London NHS Foundation Trust and University College London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Mikosch","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine 2 Landesklinikum Mistelbach, Austria, and Medical University Vienna, Externe Lehre Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Belmatoug","sequence":"additional","affiliation":[{"name":"Referral Center for Lysosomal Diseases, Department of Internal Medicine, University Hospital Paris Nord Val de Seine, Assistance Publique-H\u00f4pitaux de Paris Clichy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Carubbi","sequence":"additional","affiliation":[{"name":"Department of Biomedical Metabolic and Neural Sciences, University of Modena and Reggio Emilia, NOCSAE Hospital, AOU Modena Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"TimothyM","family":"Cox","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Cambridge Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozlem","family":"Goker-Alpan","sequence":"additional","affiliation":[{"name":"Lysosomal Disorders Research and Treatment Unit Fairfax VA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Kindmark","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetology Uppsala University Hospital Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"PramodK","family":"Mistry","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine (Digestive Diseases) Yale University School of Medicine New Haven CT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludger","family":"Poll","sequence":"additional","affiliation":[{"name":"Practice of Radiology and Nuclear Medicine Duisburg-Moers, Heinrich-Heine University D\u00fcsseldorf Duisburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neal","family":"Weinreb","sequence":"additional","affiliation":[{"name":"Departments of Human Genetics and Medicine (Hematology) Miller School of Medicine, University of Miami FL 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