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

Atul Mehta, David J Kuter, Sam S Salek, Nadia Belmatoug, Bruno Bembi, Jeremy Bright, Stephan Vom Dahl, Federica Deodato, Maja Di Rocco, Ozlem Goker-Alpan, Derralynn A Hughes, Elena A Lukina, Maciej Machaczka, Eugen Mengel, Aabha Nagral, Kimitoshi Nakamura, Aya Narita, Beatriz Oliveri, Gregory Pastores, Jordi Pérez-LópezUma Ramaswami, Ida V Schwartz, Jeff Szer, Neal J Weinreb, Ari Zimran

Research output: Contribution to journalArticle

Abstract

BACKGROUND: Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognize 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.

AIMS: 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 Gaucher disease) 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.

CONCLUSIONS: 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. This article is protected by copyright. All rights reserved.

Original languageEnglish
JournalInternal Medicine Journal
DOIs
Publication statusE-pub ahead of print - Nov 10 2018

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Gaucher Disease
Early Diagnosis
Consensus
Hepatomegaly
Splenomegaly
Thrombocytopenia
Anemia
Bone and Bones
Kyphosis
Signs and Symptoms
Epilepsy
Morbidity
Physicians
Pain

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Presenting signs and patient co-variables in Gaucher disease : outcome of the Gaucher Early Diagnosis Consensus (GED-C) Delphi initiative. / Mehta, Atul; Kuter, David J; Salek, Sam S; Belmatoug, Nadia; Bembi, Bruno; Bright, Jeremy; Vom Dahl, Stephan; Deodato, Federica; Di Rocco, Maja; Goker-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.

In: Internal Medicine Journal, 10.11.2018.

Research output: Contribution to journalArticle

Mehta, A, Kuter, DJ, Salek, SS, Belmatoug, N, Bembi, B, Bright, J, Vom Dahl, S, Deodato, F, Di Rocco, M, Goker-Alpan, O, Hughes, DA, Lukina, EA, Machaczka, M, Mengel, E, Nagral, A, Nakamura, K, Narita, A, Oliveri, B, Pastores, G, Pérez-López, J, Ramaswami, U, Schwartz, IV, Szer, J, Weinreb, NJ & Zimran, A 2018, 'Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Early Diagnosis Consensus (GED-C) Delphi initiative', Internal Medicine Journal. https://doi.org/10.1111/imj.14156
Mehta, Atul ; Kuter, David J ; Salek, Sam S ; Belmatoug, Nadia ; Bembi, Bruno ; Bright, Jeremy ; Vom Dahl, Stephan ; Deodato, Federica ; Di Rocco, Maja ; Goker-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. / Presenting signs and patient co-variables in Gaucher disease : outcome of the Gaucher Early Diagnosis Consensus (GED-C) Delphi initiative. In: Internal Medicine Journal. 2018.
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title = "Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Early Diagnosis Consensus (GED-C) Delphi initiative",
abstract = "BACKGROUND: Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognize 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.AIMS: 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 Gaucher disease) 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.CONCLUSIONS: 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. This article is protected by copyright. All rights reserved.",
author = "Atul Mehta and Kuter, {David J} and Salek, {Sam S} and Nadia Belmatoug and Bruno Bembi and Jeremy Bright and {Vom Dahl}, Stephan and Federica Deodato and {Di Rocco}, Maja and Ozlem Goker-Alpan and Hughes, {Derralynn A} and Lukina, {Elena A} and Maciej Machaczka and Eugen Mengel and Aabha Nagral and Kimitoshi Nakamura and Aya Narita and Beatriz Oliveri and Gregory Pastores and Jordi P{\'e}rez-L{\'o}pez and Uma Ramaswami and Schwartz, {Ida V} and Jeff Szer and Weinreb, {Neal J} and Ari Zimran",
note = "This article is protected by copyright. All rights reserved.",
year = "2018",
month = "11",
day = "10",
doi = "10.1111/imj.14156",
language = "English",
journal = "Internal Medicine Journal",
issn = "1444-0903",
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TY - JOUR

T1 - Presenting signs and patient co-variables in Gaucher disease

T2 - outcome of the Gaucher Early Diagnosis Consensus (GED-C) Delphi initiative

AU - Mehta, Atul

AU - Kuter, David J

AU - Salek, Sam S

AU - Belmatoug, Nadia

AU - Bembi, Bruno

AU - Bright, Jeremy

AU - Vom Dahl, Stephan

AU - Deodato, Federica

AU - Di Rocco, Maja

AU - Goker-Alpan, Ozlem

AU - Hughes, Derralynn A

AU - Lukina, Elena A

AU - Machaczka, Maciej

AU - Mengel, Eugen

AU - Nagral, Aabha

AU - Nakamura, Kimitoshi

AU - Narita, Aya

AU - Oliveri, Beatriz

AU - Pastores, Gregory

AU - Pérez-López, Jordi

AU - Ramaswami, Uma

AU - Schwartz, Ida V

AU - Szer, Jeff

AU - Weinreb, Neal J

AU - Zimran, Ari

N1 - This article is protected by copyright. All rights reserved.

PY - 2018/11/10

Y1 - 2018/11/10

N2 - BACKGROUND: Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognize 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.AIMS: 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 Gaucher disease) 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.CONCLUSIONS: 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. This article is protected by copyright. All rights reserved.

AB - BACKGROUND: Gaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognize 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.AIMS: 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 Gaucher disease) 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.CONCLUSIONS: 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. This article is protected by copyright. All rights reserved.

U2 - 10.1111/imj.14156

DO - 10.1111/imj.14156

M3 - Article

C2 - 30414226

JO - Internal Medicine Journal

JF - Internal Medicine Journal

SN - 1444-0903

ER -