dc.creator | Mehta, Atul | |
dc.creator | Kuter, David J. | |
dc.creator | Salek, Sam S. | |
dc.creator | Belmatoug, Nadia | |
dc.creator | Bembi, Bruno | |
dc.creator | Bright, Jeremy | |
dc.creator | vom Dahl, Stephan | |
dc.creator | Deodato, Federica | |
dc.creator | Di Rocco, Maja | |
dc.creator | Göker Alpan, Ozlem | |
dc.creator | Hughes, Derralynn A. | |
dc.creator | Lukina, Elena A. | |
dc.creator | Machaczka, Maciej | |
dc.creator | Mengel, Eugen | |
dc.creator | Nagral, Aabha | |
dc.creator | Nakamura, Kimitoshi | |
dc.creator | Narita, Aya | |
dc.creator | Oliveri, María Beatriz | |
dc.creator | Pastores, Gregory | |
dc.creator | Pérez-López, Jordi | |
dc.creator | Ramaswami, Uma | |
dc.creator | Schwartz, Ida V. | |
dc.creator | Szer, Jeff | |
dc.creator | Weinreb, Neal J. | |
dc.creator | Zimran, Ari | |
dc.date.accessioned | 2020-10-20T15:49:42Z | |
dc.date.accessioned | 2022-10-14T22:31:29Z | |
dc.date.available | 2020-10-20T15:49:42Z | |
dc.date.available | 2022-10-14T22:31:29Z | |
dc.date.created | 2020-10-20T15:49:42Z | |
dc.date.issued | 2019-05 | |
dc.identifier | Mehta, Atul; Kuter, David J.; Salek, Sam S.; Belmatoug, Nadia; Bembi, Bruno; et al.; Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative; Wiley Blackwell Publishing, Inc; Internal Medicine Journal; 49; 5; 5-2019; 578-591 | |
dc.identifier | 1444-0903 | |
dc.identifier | http://hdl.handle.net/11336/116167 | |
dc.identifier | CONICET Digital | |
dc.identifier | CONICET | |
dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/4314310 | |
dc.description.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. | |
dc.language | eng | |
dc.publisher | Wiley Blackwell Publishing, Inc | |
dc.relation | info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1111/imj.14156 | |
dc.relation | info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1111/imj.14156 | |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.5/ar/ | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | ALGORITHM | |
dc.subject | INBORN ERROR | |
dc.subject | LYSOSOMAL STORAGE DISEASE | |
dc.subject | METABOLISM | |
dc.subject | SPLENOMEGALY | |
dc.subject | THROMBOCYTOPENIA | |
dc.title | Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative | |
dc.type | info:eu-repo/semantics/article | |
dc.type | info:ar-repo/semantics/artículo | |
dc.type | info:eu-repo/semantics/publishedVersion | |