University of Hertfordshire


  • Atul Mehta
  • David Kuter
  • Mir-Saeed Shayegan Salek
  • N Belmatoug
  • B Bembi
  • J Bright
  • S Vom Dahl
  • F Deodato
  • M Di Rocco
  • O Goker-Alpan
  • DA Hughes
  • EA Lukina
  • M Machaczka
  • E Mengel
  • A Nagral
  • K Nakamura
  • A Narita
  • B Oliveri
  • G Pastores
  • J Pérez-López
  • And 5 others
  • U Ramaswami
  • IV Schwartz
  • J Szer
  • NJ Weinreb
  • A Zimran
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Original languageEnglish
Pages (from-to)578-591
Number of pages14
JournalInternal Medicine Journal
Early online date10 Nov 2018
Publication statusPublished - 1 May 2019


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.


© 2018 The Authors. Internal Medicine Journal by Wiley Publishing Asia Pty Ltd on behalf of Royal Australasian College of Physicians.

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