Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative
AuthorMehta, A; Kuter, DJ; Salek, SS; Belmatoug, N; Bembi, B; Bright, J; vom Dahl, S; Deodato, F; Di Rocco, M; Goker-Alpan, O; ...
Source TitleInternal Medicine Journal
University of Melbourne Author/sSzer, Jeffrey
AffiliationMedicine and Radiology
Document TypeJournal Article
CitationsMehta, A., Kuter, D. J., Salek, S. S., Belmatoug, N., Bembi, B., Bright, J., vom Dahl, S., Deodato, F., Di Rocco, M., Goker-Alpan, O., Hughes, D. A., Lukina, E. A., Machaczka, M., Mengel, E., Nagral, A., Nakamura, K., Narita, A., Oliveri, B., Pastores, G. ,... Zimran, A. (2019). Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative. INTERNAL MEDICINE JOURNAL, 49 (5), pp.578-591. https://doi.org/10.1111/imj.14156.
Access StatusOpen Access
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.
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