TY - JOUR
T1 - Presenting signs and patient co-variables in Gaucher disease
T2 - outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative
AU - Mehta, Atul
AU - Kuter, David
AU - Salek, Mir-Saeed Shayegan
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 - Pérez-López, J
AU - Ramaswami, U
AU - Schwartz, IV
AU - Szer, J
AU - Weinreb, NJ
AU - Zimran, A
N1 - © 2018 The Authors. Internal Medicine Journal by Wiley Publishing Asia Pty Ltd on behalf of Royal Australasian College of Physicians.
PY - 2019/5/1
Y1 - 2019/5/1
N2 - 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.
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.
KW - algorithm
KW - inborn error
KW - lysosomal storage disease
KW - metabolism
KW - splenomegaly
KW - thrombocytopenia
UR - http://www.scopus.com/inward/record.url?scp=85065731527&partnerID=8YFLogxK
U2 - 10.1111/imj.14156
DO - 10.1111/imj.14156
M3 - Article
SN - 1444-0903
VL - 49
SP - 578
EP - 591
JO - Internal Medicine Journal
JF - Internal Medicine Journal
IS - 5
ER -