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
INTERNAL MEDICINE JOURNAL | WILEY | Published : 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..View full abstract
Awarded by Shire International GmbH
This research was funded by unrestricted independent medical education grants (CME-GBR-12915 and IME-GBR-14397) from Shire International GmbH.