Journal article
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative
A Mehta, DJ Kuter, SS Salek, N Belmatoug, B Bembi, J Bright, S vom Dahl, F Deodato, M Di Rocco, O Göker-Alpan, DA Hughes, EA Lukina, M Machaczka, E Mengel, A Nagral, K Nakamura, A Narita, B Oliveri, G Pastores, J Pérez-López Show all
Internal Medicine Journal | WILEY | Published : 2019
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..
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Funding Acknowledgements
This research was funded by unrestricted independent medical education grants (CME-GBR-12915 and IME-GBR-14397) from Shire International GmbH.