TY  - JOUR
AU  - Mehta, A
AU  - Kuter, DJ
AU  - Salek, SS
AU  - Belmatoug, N
AU  - Bembi, B
AU  - Bright, J
AU  - vom Dahl, S
AU  - Deodato, F
AU  - Di Rocco, M
AU  - Goker-Alpan, O
AU  - Hughes, DA
AU  - Lukina, EA
AU  - Machaczka, M
AU  - Mengel, E
AU  - Nagral, A
AU  - Nakamura, K
AU  - Narita, A
AU  - Oliveri, B
AU  - Pastores, G
AU  - Perez-Lopez, J
AU  - Ramaswami, U
AU  - Schwartz, I
AU  - Szer, J
AU  - Weinreb, NJ
AU  - Zimran, A
Y2  - 2020/12/09
Y1  - 2019/05/01
SN  - 1444-0903
UR  - http://hdl.handle.net/11343/253352
AB  - 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.
LA  - English
PB  - WILEY
T1  - Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative
DO  - 10.1111/imj.14156
IS  - Internal Medicine Journal
VL  - 49
IS  - 5
SP  - 578-591
L1  - /bitstream/handle/11343/253352/PMC6852187.pdf?sequence=1&isAllowed=y
ER  -