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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorMehta, Atul
dc.contributor.authorKuter, David J.
dc.contributor.authorSalek, Sam S.
dc.contributor.authorBelmatoug, Nadia
dc.contributor.authorBembi, Bruno
dc.contributor.authorBright, Jeremy
dc.contributor.authorPérez López, Jorge
dc.date.accessioned2021-04-20T12:10:28Z
dc.date.available2021-04-20T12:10:28Z
dc.date.issued2019-05
dc.identifier.citationMehta A, Kuter DJ, Salek SS, Belmatoug N, Bembi B, Bright J, et al. Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative. Intern Med J. 2019 May 13;49(5):578–91.
dc.identifier.issn1445-5994
dc.identifier.urihttp://hdl.handle.net/11351/5880
dc.descriptionLysosomal storage disease; Metabolism; Algorithm
dc.description.abstractBackground 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. Aim The Gaucher Earlier Diagnosis Consensus (GED‐C) initiative aimed to identify signs and co‐variables considered most indicative of early type 1 and type 3 GD, to help non‐specialists identify ‘at‐risk’ patients who may benefit from diagnostic testing. Methods An anonymous, three‐round 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‐point Likert scales and scoring thresholds defined a priori. Results For type 1 disease, seven major signs (splenomegaly, thrombocytopenia, bone‐related manifestations, anaemia, hyperferritinaemia, hepatomegaly and gammopathy) and two major co‐variables (family history of GD and Ashkenazi‐Jewish 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‐variable (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. Conclusion The signs and co‐variables identified in the GED‐C initiative as potentially indicative of early GD will help to guide non‐specialists and raise their index of suspicion in identifying patients potentially suitable for diagnostic testing for GD.
dc.language.isoeng
dc.publisherWiley
dc.relation.ispartofseriesInternal Medicine Journal;49(5)
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.sourceScientia
dc.subjectGaucher, Malaltia de
dc.subjectPrognosi
dc.subject.meshGaucher Disease
dc.subject.meshDelphi Technique
dc.subject.meshEarly Diagnosis
dc.titlePresenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1111/imj.14156
dc.subject.decsenfermedad de Gaucher
dc.subject.decstécnica Delfos
dc.subject.decsdiagnóstico precoz
dc.relation.publishversionhttps://onlinelibrary.wiley.com/doi/10.1111/imj.14156
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Mehta A] Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital, UCL Medical School, London. [Kuter DJ] Center for Hematology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts. [Salek SS] School of Life and Medical Sciences, University of Hertfordshire, Hatfield. [Belmatoug N] Referral Center for Lysosomal Diseases, University Hospital Paris Nord Val de Seine, site Beaujon, Clichy, Paris, France. [Bembi B] Centre for Rare Diseases, Academic Medical Centre Hospital of Udine, Udine. [Bright J] Research Evaluation Unit, Oxford PharmaGenesis Ltd, Oxford, UK. [Pérez-López J] Unitat de Malalties minoritàries, Vall d’Hebron Hospital Universitari, Barcelona, Spain
dc.identifier.pmid30414226
dc.identifier.wos000467848600005
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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