dc.contributor.author | Mehta, Atul | |
dc.contributor.author | Kuter, David | |
dc.contributor.author | Salek, Mir-Saeed Shayegan | |
dc.contributor.author | Belmatoug , N | |
dc.contributor.author | Bembi , B | |
dc.contributor.author | Bright, J | |
dc.contributor.author | Vom Dahl, S | |
dc.contributor.author | Deodato, F | |
dc.contributor.author | Di Rocco, M | |
dc.contributor.author | Goker-Alpan, O | |
dc.contributor.author | Hughes, DA | |
dc.contributor.author | Lukina, EA | |
dc.contributor.author | Machaczka, M | |
dc.contributor.author | Mengel, E | |
dc.contributor.author | Nagral, A | |
dc.contributor.author | Nakamura, K | |
dc.contributor.author | Narita, A | |
dc.contributor.author | Oliveri , B | |
dc.contributor.author | Pastores, G | |
dc.contributor.author | Pérez-López, J | |
dc.contributor.author | Ramaswami, U | |
dc.contributor.author | Schwartz, IV | |
dc.contributor.author | Szer, J | |
dc.contributor.author | Weinreb, NJ | |
dc.contributor.author | Zimran, A | |
dc.date.accessioned | 2019-05-15T14:05:04Z | |
dc.date.available | 2019-05-15T14:05:04Z | |
dc.date.issued | 2019-05-01 | |
dc.identifier.citation | Mehta , 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.issn | 1444-0903 | |
dc.identifier.uri | http://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.abstract | Background: 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.extent | 14 | |
dc.format.extent | 9638434 | |
dc.language.iso | eng | |
dc.relation.ispartof | Internal Medicine Journal | |
dc.subject | algorithm | |
dc.subject | inborn error | |
dc.subject | lysosomal storage disease | |
dc.subject | metabolism | |
dc.subject | splenomegaly | |
dc.subject | thrombocytopenia | |
dc.subject | Internal Medicine | |
dc.title | Presenting signs and patient co-variables in Gaucher disease : outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative | en |
dc.contributor.institution | Public Health and Patient Safety Unit | |
dc.contributor.institution | Centre for Health Services and Clinical Research | |
dc.contributor.institution | School of Life and Medical Sciences | |
dc.contributor.institution | Department of Clinical and Pharmaceutical Sciences | |
dc.description.status | Peer reviewed | |
dc.identifier.url | http://www.scopus.com/inward/record.url?scp=85065731527&partnerID=8YFLogxK | |
rioxxterms.versionofrecord | 10.1111/imj.14156 | |
rioxxterms.type | Journal Article/Review | |
herts.preservation.rarelyaccessed | true | |