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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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.
AbstractList	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.BACKGROUNDGaucher 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.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.AIMThe 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.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.METHODSAn 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.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.RESULTSFor 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.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.CONCLUSIONThe 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. BackgroundGaucher 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.AimThe 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.MethodsAn 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.ResultsFor 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.ConclusionThe 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. 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. 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. 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. 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. 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. 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.
Author	Machaczka, Maciej Kuter, David J. Szer, Jeff Mengel, Eugen Pastores, Gregory Bright, Jeremy Oliveri, Beatriz Nagral, Aabha Salek, Sam S. Narita, Aya Ramaswami, Uma Lukina, Elena A. Nakamura, Kimitoshi Belmatoug, Nadia Bembi, Bruno vom Dahl, Stephan Zimran, Ari Pérez‐López, Jordi Di Rocco, Maja Hughes, Derralynn A. Göker‐Alpan, Ozlem Schwartz, Ida V. Deodato, Federica Mehta, Atul Weinreb, Neal J.
AuthorAffiliation	18 Department of Child Neurology Faculty of Medicine, Tottori University Yon ago Japan 6 Research Evaluation Unit Oxford PharmaGenesis Ltd Oxford UK 16 Department of Gastroenterology Apollo Hospital Mumbai India 23 Department of Clinical Haematology, Bone Marrow Transplant Service The Royal Melbourne Hospital Melbourne Victoria Australia 15 Department of Gastroenterology Jaslok Hospital and Research Centre Mumbai India 7 Department of Gastroenterology, Hepatology and Infectious Diseases Heinrich‐Heine University Düsseldorf Germany 24 Department of Human Genetics and Medicine (Hematology) University of Miami Miller School of Medicine, UHealth Sylvester Coral Springs Coral Springs Florida USA 3 School of Life and Medical Sciences, University of Hertfordshire Hatfield UK 22 Medical Genetics Service – HCPA, Genetics Department UFRGS Porto Alegre Brazil 1 Lysosomal Storage Disorders Unit, Department of Haematology Royal Free Hospital, UCL Medical School London UK 25 Shaare Zedek Medical Center and Ha
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Cites_doi	10.1016/j.ymgme.2015.05.012 10.1002/ajh.24369 10.1007/s12325-015-0249-6 10.1002/ajh.23381 10.1182/blood-2011-07-366955 10.1016/j.ajem.2016.06.006 10.1002/ajh.20908 10.1111/j.1399-0004.2008.00978.x 10.1016/j.ymgmr.2016.06.003 10.1002/ajh.24055 10.1002/ajmg.a.20117 10.1186/s13023-017-0627-z 10.1001/archpedi.160.6.603 10.1182/blood-2012-03-420489 10.1038/ajg.2009.129 10.1002/ajh.23382 10.1111/j.1365-2141.2009.07872.x 10.1371/journal.pone.0135162 10.3390/ijms18020441 10.1016/j.ajo.2016.05.013 10.1186/s12874-016-0165-8 10.1177/106002809603000411 10.1097/BRS.0000000000001476 10.1002/pbc.25165 10.1111/j.1399-0004.2007.00811.x 10.1016/j.ejim.2013.09.006 10.1002/ajh.21362 10.1016/j.bcmd.2012.11.004 10.1089/gte.1998.2.297 10.1002/ajh.24040 10.1002/ajh.21888 10.1056/NEJM197306142882405 10.1016/j.bcmd.2013.04.005
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Keywords	inborn error metabolism lysosomal storage disease thrombocytopenia splenomegaly algorithm
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Notes	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Review-3 content type line 23 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.
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References	1973; 288 2012; 120 2009; 84 2013; 88 2015; 10 2015; 32 2011; 53 2016; 168 1996; 30 2014; 25 2007; 71 1993 2016; 91 2008; 73 2014; 61 2016; 16 2007; 12 2012; 10 2014; 88 2016; 34 2001 2013; 51 2013; 50 2017; 12 2011; 86 2016; 41 2003; 120A 2007; 82 2016; 117 2017; 18 1998; 2 2015; 90 2006; 160 2009; 147 2016; 8 2012; 118 2009; 104 e_1_2_7_6_1 e_1_2_7_5_1 e_1_2_7_4_1 e_1_2_7_9_1 e_1_2_7_8_1 e_1_2_7_17_1 e_1_2_7_16_1 e_1_2_7_2_1 e_1_2_7_15_1 e_1_2_7_14_1 e_1_2_7_13_1 e_1_2_7_12_1 Grabowski GA (e_1_2_7_7_1) 2001 e_1_2_7_11_1 e_1_2_7_10_1 e_1_2_7_26_1 e_1_2_7_27_1 e_1_2_7_28_1 e_1_2_7_29_1 Pastores GM (e_1_2_7_3_1) 1993 e_1_2_7_30_1 Arikan‐Ayyildiz Z (e_1_2_7_19_1) 2011; 53 e_1_2_7_25_1 e_1_2_7_31_1 e_1_2_7_24_1 e_1_2_7_32_1 e_1_2_7_23_1 e_1_2_7_22_1 e_1_2_7_34_1 e_1_2_7_21_1 e_1_2_7_35_1 e_1_2_7_20_1 e_1_2_7_36_1 e_1_2_7_37_1 e_1_2_7_38_1 e_1_2_7_39_1 Mistry PK (e_1_2_7_33_1) 2012; 10 Hsu CC (e_1_2_7_18_1) 2007; 12 31387147 - Intern Med J. 2019 Aug;49(8):1059. doi: 10.1111/imj.14410
References_xml	– volume: 71 start-page: 576 year: 2007 end-page: 88 article-title: Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease publication-title: Clin Genet – volume: 51 start-page: 116 year: 2013 end-page: 24 article-title: Miglustat therapy in type 1 Gaucher disease: clinical and safety outcomes in a multicenter retrospective cohort study publication-title: Blood Cells Mol Dis – volume: 8 start-page: 17 year: 2016 end-page: 19 article-title: Clinical response to eliglustat in treatment‐naive patients with Gaucher disease type 1: post‐hoc comparison to imiglucerase‐treated patients enrolled in the International Collaborative Gaucher Group Gaucher Registry publication-title: Mol Genet Metab Rep – volume: 10 start-page: e0135162 year: 2015 article-title: Evaluation of nine consensus indices in Delphi foresight research and their dependency on Delphi survey characteristics: a simulation study and debate on Delphi design and interpretation publication-title: PLoS One – volume: 34 start-page: 1631 year: 2016 end-page: 6 article-title: A guideline for differential diagnosis between septic arthritis and transient synovitis in the ED: a Delphi survey publication-title: Am J Emerg Med – volume: 53 start-page: 499 year: 2011 end-page: 507 article-title: Outcome of enzyme replacement therapy in Turkish patients with Gaucher disease: does late intervention affect the response? publication-title: Turk J Pediatr – volume: 84 start-page: 208 year: 2009 end-page: 14 article-title: The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients publication-title: Am J Hematol – volume: 25 start-page: 117 year: 2014 end-page: 24 article-title: Gaucher disease: a diagnostic challenge for internists publication-title: Eur J Intern Med – volume: 90 start-page: 577 year: 2015 end-page: 83 article-title: Seven‐year safety and efficacy with velaglucerase alfa for treatment‐naive adult patients with type 1 Gaucher disease publication-title: Am J Hematol – volume: 160 start-page: 603 year: 2006 end-page: 8 article-title: The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis publication-title: Arch Pediatr Adolesc Med – volume: 12 start-page: 1 year: 2007 end-page: 8 article-title: The Delphi technique: making sense of consensus publication-title: Pract Assess Res Eval – volume: 12 start-page: 84 year: 2017 article-title: Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national‐base study from the Spanish Registry of Gaucher disease publication-title: Orphanet J Rare Dis – volume: 61 start-page: 1905 year: 2014 end-page: 9 article-title: Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm publication-title: Pediatr Blood Cancer – volume: 91 start-page: 656 year: 2016 end-page: 60 article-title: Long‐term efficacy and safety results of taliglucerase alfa up to 36 months in adult treatment‐naive patients with Gaucher disease publication-title: Am J Hematol – volume: 118 start-page: 5767 year: 2012 end-page: 73 article-title: Pivotal trial with plant cell‐expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease publication-title: Blood – volume: 117 start-page: 164 year: 2016 end-page: 71 article-title: Long‐term velaglucerase alfa treatment in children with Gaucher disease type 1 naive to enzyme replacement therapy or previously treated with imiglucerase publication-title: Mol Genet Metab – volume: 88 start-page: 179 year: 2014 end-page: 84 article-title: Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease publication-title: Am J Hematol – volume: 288 start-page: 1272 year: 1973 end-page: 5 article-title: Medical assessment by a Delphi group opinion technic publication-title: N Engl J Med – volume: 88 start-page: 166 year: 2013 end-page: 71 article-title: Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: results from a randomized, double‐blind, multinational, phase 3 study publication-title: Am J Hematol – volume: 90 start-page: S6 year: 2015 end-page: 11 article-title: Understanding the natural history of Gaucher disease publication-title: Am J Hematol – volume: 16 start-page: 56 year: 2016 article-title: Using the modified Delphi method to establish clinical consensus for the diagnosis and treatment of patients with rotator cuff pathology publication-title: BMC Med Res Methodol – volume: 86 start-page: 110 year: 2011 end-page: 15 article-title: A reappraisal of Gaucher disease – diagnosis and disease management algorithms publication-title: Am J Hematol – volume: 32 start-page: 929 year: 2015 end-page: 43 article-title: Development of a consensus statement for the definition, diagnosis, and treatment of acute exacerbations of idiopathic pulmonary fibrosis using the Delphi technique publication-title: Adv Ther – volume: 73 start-page: 430 year: 2008 end-page: 40 article-title: Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48‐month longitudinal cohort study publication-title: Clin Genet – volume: 104 start-page: 1278 year: 2009 end-page: 95 article-title: A global, evidence‐based consensus on the definition of gastroesophageal reflux disease in the pediatric population publication-title: Am J Gastroenterol – volume: 2 start-page: 297 year: 1998 end-page: 9 article-title: Asymptomatic Gaucher disease implications for large‐scale screening publication-title: Genet Test – volume: 50 start-page: 212 year: 2013 end-page: 17 article-title: Diagnosing Gaucher disease: an on‐going need for increased awareness amongst haematologists publication-title: Blood Cells Mol Dis – volume: 120 start-page: 2454 year: 2012 end-page: 65 article-title: Revised international prognostic scoring system for myelodysplastic syndromes publication-title: Blood – volume: 10 start-page: 1 year: 2012 end-page: 16 article-title: Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion publication-title: Clin Adv Hematol Oncol – volume: 30 start-page: 381 year: 1996 end-page: 8 article-title: Gaucher's disease: a review publication-title: Ann Pharmacother – volume: 18 start-page: 441 year: 2017 article-title: A review of Gaucher disease pathophysiology, clinical presentation and treatments publication-title: Int J Mol Sci – volume: 147 start-page: 561 year: 2009 end-page: 70 article-title: Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis publication-title: Br J Haematol – volume: 120A start-page: 338 year: 2003 end-page: 44 article-title: Perinatal‐lethal Gaucher disease publication-title: Am J Med Genet A – volume: 41 start-page: 1239 year: 2016 end-page: 46 article-title: ISSLS prize winner: consensus on the clinical diagnosis of lumbar spinal stenosis: results of an international Delphi study publication-title: Spine (Phila Pa 1976) – year: 1993 – start-page: 2276 year: 2001 end-page: 81 – volume: 82 start-page: 697 year: 2007 end-page: 701 article-title: Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists‐oncologists and an opportunity for early diagnosis and intervention publication-title: Am J Hematol – volume: 168 start-page: 183 year: 2016 end-page: 90 article-title: Consensus on the diagnosis and management of nonparaneoplastic autoimmune retinopathy using a modified Delphi approach publication-title: Am J Ophthalmol – ident: e_1_2_7_23_1 doi: 10.1016/j.ymgme.2015.05.012 – ident: e_1_2_7_24_1 doi: 10.1002/ajh.24369 – ident: e_1_2_7_39_1 doi: 10.1007/s12325-015-0249-6 – ident: e_1_2_7_26_1 doi: 10.1002/ajh.23381 – ident: e_1_2_7_27_1 doi: 10.1182/blood-2011-07-366955 – ident: e_1_2_7_35_1 doi: 10.1016/j.ajem.2016.06.006 – ident: e_1_2_7_12_1 doi: 10.1002/ajh.20908 – ident: e_1_2_7_30_1 doi: 10.1111/j.1399-0004.2008.00978.x – ident: e_1_2_7_22_1 doi: 10.1016/j.ymgmr.2016.06.003 – ident: e_1_2_7_4_1 doi: 10.1002/ajh.24055 – ident: e_1_2_7_5_1 doi: 10.1002/ajmg.a.20117 – ident: e_1_2_7_13_1 doi: 10.1186/s13023-017-0627-z – ident: e_1_2_7_32_1 doi: 10.1001/archpedi.160.6.603 – volume: 53 start-page: 499 year: 2011 ident: e_1_2_7_19_1 article-title: Outcome of enzyme replacement therapy in Turkish patients with Gaucher disease: does late intervention affect the response? publication-title: Turk J Pediatr – ident: e_1_2_7_31_1 doi: 10.1182/blood-2012-03-420489 – volume: 10 start-page: 1 year: 2012 ident: e_1_2_7_33_1 article-title: Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion publication-title: Clin Adv Hematol Oncol – ident: e_1_2_7_34_1 doi: 10.1038/ajg.2009.129 – ident: e_1_2_7_25_1 doi: 10.1002/ajh.23382 – ident: e_1_2_7_20_1 doi: 10.1111/j.1365-2141.2009.07872.x – ident: e_1_2_7_17_1 doi: 10.1371/journal.pone.0135162 – ident: e_1_2_7_2_1 doi: 10.3390/ijms18020441 – ident: e_1_2_7_36_1 doi: 10.1016/j.ajo.2016.05.013 – ident: e_1_2_7_37_1 doi: 10.1186/s12874-016-0165-8 – ident: e_1_2_7_8_1 doi: 10.1177/106002809603000411 – ident: e_1_2_7_38_1 doi: 10.1097/BRS.0000000000001476 – ident: e_1_2_7_14_1 doi: 10.1002/pbc.25165 – ident: e_1_2_7_21_1 doi: 10.1111/j.1399-0004.2007.00811.x – ident: e_1_2_7_10_1 doi: 10.1016/j.ejim.2013.09.006 – ident: e_1_2_7_9_1 doi: 10.1002/ajh.21362 – ident: e_1_2_7_11_1 doi: 10.1016/j.bcmd.2012.11.004 – ident: e_1_2_7_6_1 doi: 10.1089/gte.1998.2.297 – ident: e_1_2_7_29_1 doi: 10.1002/ajh.24040 – ident: e_1_2_7_15_1 doi: 10.1002/ajh.21888 – volume-title: GeneReviews year: 1993 ident: e_1_2_7_3_1 – ident: e_1_2_7_16_1 doi: 10.1056/NEJM197306142882405 – volume: 12 start-page: 1 year: 2007 ident: e_1_2_7_18_1 article-title: The Delphi technique: making sense of consensus publication-title: Pract Assess Res Eval – ident: e_1_2_7_28_1 doi: 10.1016/j.bcmd.2013.04.005 – start-page: 2276 volume-title: Harrison's Principles of Internal Medicine year: 2001 ident: e_1_2_7_7_1 – reference: 31387147 - Intern Med J. 2019 Aug;49(8):1059. doi: 10.1111/imj.14410
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Snippet	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... 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,... BackgroundGaucher 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...
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SubjectTerms	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
Title	Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative
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