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dc.contributor.authorMehta, Atul
dc.contributor.authorKuter, David
dc.contributor.authorSalek, Mir-Saeed Shayegan
dc.contributor.authorBelmatoug , N
dc.contributor.authorBembi , B
dc.contributor.authorBright, J
dc.contributor.authorVom Dahl, S
dc.contributor.authorDeodato, F
dc.contributor.authorDi Rocco, M
dc.contributor.authorGoker-Alpan, O
dc.contributor.authorHughes, DA
dc.contributor.authorLukina, EA
dc.contributor.authorMachaczka, M
dc.contributor.authorMengel, E
dc.contributor.authorNagral, A
dc.contributor.authorNakamura, K
dc.contributor.authorNarita, A
dc.contributor.authorOliveri , B
dc.contributor.authorPastores, G
dc.contributor.authorPérez-López, J
dc.contributor.authorRamaswami, U
dc.contributor.authorSchwartz, IV
dc.contributor.authorSzer, J
dc.contributor.authorWeinreb, NJ
dc.contributor.authorZimran, A
dc.date.accessioned2019-05-15T14:05:04Z
dc.date.available2019-05-15T14:05:04Z
dc.date.issued2019-05-01
dc.identifier.citationMehta , A , Kuter , D , Salek , M-S S , Belmatoug , N , Bembi , B , Bright , J , Vom Dahl , S , Deodato , F , Di Rocco , M , Goker-Alpan , O , Hughes , DA , Lukina , EA , Machaczka , M , Mengel , E , Nagral , A , Nakamura , K , Narita , A , Oliveri , B , Pastores , G , Pérez-López , J , Ramaswami , U , Schwartz , IV , Szer , J , Weinreb , NJ & Zimran , A 2019 , ' Presenting signs and patient co-variables in Gaucher disease : outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative ' , Internal Medicine Journal , vol. 49 , no. 5 , pp. 578-591 . https://doi.org/10.1111/imj.14156
dc.identifier.issn1445-5994
dc.identifier.otherPURE: 16444843
dc.identifier.otherPURE UUID: 563a00c8-d2b3-4305-9aba-c79707364ea1
dc.identifier.urihttp://hdl.handle.net/2299/21333
dc.description© 2018 The Authors. Internal Medicine Journal by Wiley Publishing Asia Pty Ltd on behalf of Royal Australasian College of Physicians.
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.en
dc.format.extent14
dc.language.isoeng
dc.relation.ispartofInternal Medicine Journal
dc.rightsOpen
dc.subjectalgorithm
dc.subjectinborn error
dc.subjectlysosomal storage disease
dc.subjectmetabolism
dc.subjectsplenomegaly
dc.subjectthrombocytopenia
dc.subjectInternal Medicine
dc.titlePresenting signs and patient co-variables in Gaucher disease : outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiativeen
dc.contributor.institutionPublic Health and Patient Safety Unit
dc.contributor.institutionCentre for Health Services and Clinical Research
dc.contributor.institutionSchool of Life and Medical Sciences
dc.contributor.institutionDepartment of Clinical and Pharmaceutical Sciences
dc.description.statusPeer reviewed
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85065731527&partnerID=8YFLogxK
dc.relation.schoolSchool of Life and Medical Sciences
dc.description.versiontypeFinal Published version
dcterms.dateAccepted2019-05-01
rioxxterms.versionAM
rioxxterms.versionVoR
rioxxterms.versionofrecordhttps://doi.org/10.1111/imj.14156
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
rioxxterms.typeJournal Article/Review
herts.preservation.rarelyaccessedtrue
herts.rights.accesstypeOpen


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