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

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 Dia...

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Published in:Internal medicine journal Vol. 49; no. 5; pp. 578 - 591
Main Authors: Mehta, Atul, Kuter, David J., Salek, Sam S., Belmatoug, Nadia, Bembi, Bruno, Bright, Jeremy, vom Dahl, Stephan, Deodato, Federica, Di Rocco, Maja, Göker‐Alpan, Ozlem, Hughes, Derralynn A., Lukina, Elena A., Machaczka, Maciej, Mengel, Eugen, Nagral, Aabha, Nakamura, Kimitoshi, Narita, Aya, Oliveri, Beatriz, Pastores, Gregory, Pérez‐López, Jordi, Ramaswami, Uma, Schwartz, Ida V., Szer, Jeff, Weinreb, Neal J., Zimran, Ari
Format: Journal Article
Language:English
Published: Melbourne John Wiley & Sons Australia, Ltd 01.05.2019
Wiley Subscription Services, Inc
Subjects:
algorithm
Anemia
Consensus
Delphi Technique
Diagnosis
Diagnostic tests
Early Diagnosis
Epilepsy
Family medical history
Gammopathy
Gaucher Disease - diagnosis
Gaucher Disease - physiopathology
Gaucher's disease
Humans
inborn error
Kyphosis
lysosomal storage disease
metabolism
Original
Physicians - standards
Splenomegaly
Thrombocytopenia
Variables
inborn error
metabolism
lysosomal storage disease
thrombocytopenia
splenomegaly
algorithm
ISSN:1444-0903, 1445-5994, 1445-5994
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Summary: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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Funding: This research was funded by unrestricted independent medical education grants (CME‐GBR‐12915 and IME‐GBR‐14397) from Shire International GmbH.
Conflict of interest: A. Mehta has received consulting fees from Amicus, Pfizer, Sanofi Genzyme and Shire, and has received research funding from Amicus, Protalix, Rigel, Sanofi Genzyme and Shire. D. J. Kuter has received consulting fees and research funding from Actelion, Genzyme, Protalix/Pfizer and Shire. S. S. Salek has received consulting fees and travel grants from Servier and Shire, and has received research funding from Bristol‐Myers Squibb, Novartis and Sanofi. N. Belmatoug has received fees for lectures, travel reimbursement and participation on advisory boards and scientific committees from Sanofi Genzyme and Shire. B. Bembi has received consulting fees and/or research support from Actelion, Genzyme and Shire. J. Bright was an employee of Oxford PharmaGenesis Ltd at the time this work was conducted. S. vom Dahl has received consulting fees, research funding and travel reimbursement from Actelion, Genzyme, Protalix/Pfizer and Shire. F. Deodato has received fees from Actelion, Sanofi Genzyme and Shire for lectures, participation on advisory boards and travel reimbursement. M. Di Rocco has received honoraria from Sanofi Genzyme and Shire. O. Göker‐Alpan has received consulting fees from Actelion, Genzyme, Pfizer and Shire, and research support from Alexion, Amicus, Genzyme, Pfizer and Shire. D. A. Hughes has received consultancy fees, honoraria and research support from Actellion, Amicus, Protalix, Sanofi Genzyme and Shire. E. A. Lukina has received honoraria from Sanofi Genzyme and Shire. M. Machaczka has received honoraria from Sanofi Genzyme and Shire. E. Mengel has received honoraria and/or consulting fees from Actelion, Alexion, BioMarin, Orphazyme, Sanofi Genzyme and Shire. A. Nagral has received travel reimbursement from Sanofi Genzyme. K. Nakamura has received honoraria from Shire and research funding from Sanofi Genzyme and Shire. A. Narita has received research funding from Actelion, Sanofi Genzyme and Shire and fees for attending advisory boards from Actelion, BioMarin, Sanofi Genzyme and Shire. B. Oliveri has received honoraria from GlaxoSmithKline and Shire. G. Pastores has received honoraria and/or consulting fees from BioMarin and Shire. J. Pérez‐López has received honoraria and/or consulting fees from BioMarin, Sanofi Genzyme and Shire. U. Ramaswami has received travel, research grants and/or honoraria from Amicus, Alexion, Genzyme, Protalix and Shire. I. Schwartz has received honoraria from Shire. J. Szer has received honoraria from Alexion and travel grants from Pfizer, Sanofi Genzyme and Shire. N. J. Weinreb has received honoraria and research support from Genzyme‐Sanofi, Pfizer and Shire. A. Zimran has received consulting fees and/or research support from Genzyme, Pfizer and Shire.
ISSN:1444-0903
1445-5994
1445-5994
DOI:10.1111/imj.14156