• Atul Mehta, David J Kuter, Sam S Salek, Nadia Belmatoug, Bruno Bembi, Jeremy Bright, Stephan Vom Dahl, Federica Deodato, Maja Di Rocco, Ozlem Göker-Alpan, Derralynn A Hughes, Elena A Lukina, Maciej Machaczka, Eugen Mengel, Aabha Nagral, Kimitoshi Nakamura, Aya Narita, Beatriz Oliveri, Gregory Pastores, Jordi Pérez-López, Uma Ramaswami, Ida V Schwartz, Jeff Szer, Neal J Weinreb, and Ari Zimran.
• Lysosomal Storage Disorders Unit, Department of Haematology, Royal Free Hospital, UCL Medical School, London, UK.
• Intern Med J. 2019 May 1; 49 (5): 578591578-591.

BackgroundGaucher 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.AimThe 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.MethodsAn 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.ResultsFor 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.ConclusionThe 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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