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 language | English |
|---|---|
| Journal | Internal Medicine Journal |
| DOIs | |
| Publication status | E-pub ahead of print - Nov 10 2018 |
Fingerprint
Cite this
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 journal › Article
}
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 -