University Library
  • Login
A gateway to Melbourne's research publications
Minerva Access is the University's Institutional Repository. It aims to collect, preserve, and showcase the intellectual output of staff and students of the University of Melbourne for a global audience.
View Item 
  • Minerva Access
  • Medicine, Dentistry & Health Sciences
  • Melbourne Medical School
  • Medicine and Radiology
  • Medicine and Radiology - Research Publications
  • View Item
  • Minerva Access
  • Medicine, Dentistry & Health Sciences
  • Melbourne Medical School
  • Medicine and Radiology
  • Medicine and Radiology - Research Publications
  • View Item
JavaScript is disabled for your browser. Some features of this site may not work without it.

    Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative

    Thumbnail
    Download
    Published version (9.191Mb)

    Citations
    Scopus
    Web of Science
    Altmetric
    5
    5
    Author
    Mehta, A; Kuter, DJ; Salek, SS; Belmatoug, N; Bembi, B; Bright, J; vom Dahl, S; Deodato, F; Di Rocco, M; Goker-Alpan, O; ...
    Date
    2019-05-01
    Source Title
    Internal Medicine Journal
    Publisher
    WILEY
    University of Melbourne Author/s
    Szer, Jeffrey
    Affiliation
    Medicine and Radiology
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Mehta, 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.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/253352
    DOI
    10.1111/imj.14156
    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.

    Export Reference in RIS Format     

    Endnote

    • Click on "Export Reference in RIS Format" and choose "open with... Endnote".

    Refworks

    • Click on "Export Reference in RIS Format". Login to Refworks, go to References => Import References


    Collections
    • Minerva Elements Records [45689]
    • Medicine and Radiology - Research Publications [2346]
    Minerva AccessDepositing Your Work (for University of Melbourne Staff and Students)NewsFAQs

    BrowseCommunities & CollectionsBy Issue DateAuthorsTitlesSubjectsThis CollectionBy Issue DateAuthorsTitlesSubjects
    My AccountLoginRegister
    StatisticsMost Popular ItemsStatistics by CountryMost Popular Authors