{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T01:03:11Z","timestamp":1792371791524,"version":"4.4.0"},"reference-count":38,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,5,13]],"date-time":"2019-05-13T00:00:00Z","timestamp":1557705600000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Shire International GmbH","award":["CME-GBR-12915 and IME-GBR-1439"],"award-info":[{"award-number":["CME-GBR-12915 and IME-GBR-1439"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Internal Medicine Journal"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognise the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic delays and sometimes irreversible but avoidable morbidities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aim<\/jats:title><jats:p>The Gaucher Earlier Diagnosis Consensus (GED\u2010C) initiative aimed to identify signs and co\u2010variables considered most indicative of early type 1 and type 3 GD, to help non\u2010specialists identify \u2018at\u2010risk\u2019 patients who may benefit from diagnostic testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>An anonymous, three\u2010round Delphi consensus process was deployed among a global panel of 22 specialists in GD (median experience 17.5 years, collectively managing almost 3000 patients). The rounds entailed data gathering, then importance ranking and establishment of consensus, using 5\u2010point Likert scales and scoring thresholds defined <jats:italic>a priori<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>For type 1 disease, seven major signs (splenomegaly, thrombocytopenia, bone\u2010related manifestations, anaemia, hyperferritinaemia, hepatomegaly and gammopathy) and two major co\u2010variables (family history of GD and Ashkenazi\u2010Jewish ancestry) were identified. For type 3 disease, nine major signs (splenomegaly, oculomotor disturbances, thrombocytopenia, epilepsy, anaemia, hepatomegaly, bone pain, motor disturbances and kyphosis) and one major co\u2010variable (family history of GD) were identified. Lack of disease awareness, overlooking mild early signs and failure to consider GD as a diagnostic differential were considered major barriers to early diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The signs and co\u2010variables identified in the GED\u2010C initiative as potentially indicative of early GD will help to guide non\u2010specialists and raise their index of suspicion in identifying patients potentially suitable for diagnostic testing for GD.<\/jats:p><\/jats:sec>","DOI":"10.1111\/imj.14156","type":"journal-article","created":{"date-parts":[[2018,11,10]],"date-time":"2018-11-10T08:53:27Z","timestamp":1541840007000},"page":"578-591","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":57,"title":["Presenting signs and patient co\u2010variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED\u2010C) Delphi initiative"],"prefix":"10.1111","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6474-9959","authenticated-orcid":false,"given":"Atul","family":"Mehta","sequence":"first","affiliation":[{"name":"Lysosomal Storage Disorders Unit, Department of Haematology Royal Free Hospital, UCL Medical School  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Kuter","sequence":"additional","affiliation":[{"name":"Center for Hematology Massachusetts General Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sam S.","family":"Salek","sequence":"additional","affiliation":[{"name":"School of Life and Medical Sciences, University of Hertfordshire  Hatfield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Belmatoug","sequence":"additional","affiliation":[{"name":"Referral Center for Lysosomal Diseases, University Hospital Paris Nord Val de 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