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dc.contributor.authorMehta, A
dc.contributor.authorKuter, DJ
dc.contributor.authorSalek, SS
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.authorPerez-Lopez, J
dc.contributor.authorRamaswami, U
dc.contributor.authorSchwartz, I
dc.contributor.authorSzer, J
dc.contributor.authorWeinreb, NJ
dc.contributor.authorZimran, A
dc.date.accessioned2020-12-09T23:53:04Z
dc.date.available2020-12-09T23:53:04Z
dc.date.issued2019-05-01
dc.identifier.citationMehta, A., Kuter, D. J., Salek, S. S., Belmatoug, N., Bembi, B., Bright, J., vom Dahl, S., Deodato, F., Di Rocco, M., Goker-Alpan, O., Hughes, D. A., Lukina, E. A., Machaczka, M., Mengel, E., Nagral, A., Nakamura, K., Narita, A., Oliveri, B., Pastores, G. ,... 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, 49 (5), pp.578-591. https://doi.org/10.1111/imj.14156.
dc.identifier.issn1444-0903
dc.identifier.urihttp://hdl.handle.net/11343/253352
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.languageEnglish
dc.publisherWILEY
dc.titlePresenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative
dc.typeJournal Article
dc.identifier.doi10.1111/imj.14156
melbourne.affiliation.departmentMedicine and Radiology
melbourne.source.titleInternal Medicine Journal
melbourne.source.volume49
melbourne.source.issue5
melbourne.source.pages578-591
dc.rights.licenseCC BY-NC-ND
melbourne.elementsid1355942
melbourne.contributor.authorSzer, Jeffrey
dc.identifier.eissn1445-5994
melbourne.accessrightsOpen Access


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