Journal article

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

Atul Mehta, David J Kuter, Sam S Salek, Nadia Belmatoug, Bruno Bembi, Jeremy Bright, Stephan vom Dahl, Federica Deodato, Maja Di Rocco, Ozlem Goker-Alpan, Derralynn A Hughes, Elena A Lukina, Maciej Machaczka, Eugen Mengel, Aabha Nagral, Kimitoshi Nakamura, Aya Narita, Beatriz Oliveri, Gregory Pastores, Jordi Perez-Lopez Show all



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..

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