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

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        Author
        Mehta, Atul
        Kuter, David
        Salek, Mir-Saeed Shayegan
        Belmatoug , N
        Bembi , B
        Bright, J
        Vom Dahl, S
        Deodato, F
        Di Rocco, M
        Goker-Alpan, O
        Hughes, DA
        Lukina, EA
        Machaczka, M
        Mengel, E
        Nagral, A
        Nakamura, K
        Narita, A
        Oliveri , B
        Pastores, G
        Pérez-López, J
        Ramaswami, U
        Schwartz, IV
        Szer, J
        Weinreb, NJ
        Zimran, A
        Attention
        2299/21333
        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 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.
        Publication date
        2019-05-01
        Published in
        Internal Medicine Journal
        Published version
        https://doi.org/10.1111/imj.14156
        License
        http://creativecommons.org/licenses/by-nc-nd/4.0/
        Other links
        http://hdl.handle.net/2299/21333
        Relations
        School of Life and Medical Sciences
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