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RESEARCH PRODUCT

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

subject

description

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. Fil: Mehta, Atul. University of California at Los Angeles; Estados Unidos Fil: Kuter, David J.. Harvard Medical School; Estados Unidos Fil: Salek, Sam S.. University Of Hertfordshire; Reino Unido Fil: Belmatoug, Nadia. University Hospital Paris Nord Val de Seine.Referral Center for Lysosomal Diseases; Francia Fil: Bembi, Bruno. Academic Medical Centre Hospital of Udine; Italia Fil: Bright, Jeremy. Oxford PharmaGenesis Ltd. Research Evaluation Unit; Reino Unido Fil: vom Dahl, Stephan. Heinrich-Heine University; Alemania Fil: Deodato, Federica. Bambino Gesù Children’s Hospital; Italia Fil: Di Rocco, Maja. Istituto Giannina Gaslini; Italia Fil: Göker Alpan, Ozlem. No especifíca; Fil: Hughes, Derralynn A.. University of California at Los Angeles; Estados Unidos Fil: Lukina, Elena A.. National Research Center for Hematology; Rusia Fil: Machaczka, Maciej. University Of Rzeszów; Polonia. Karolinska University Hospital Huddinge; Suecia Fil: Mengel, Eugen. Johannes Gutenberg Universitat Mainz; Alemania Fil: Nagral, Aabha. Apollo Hospital; India Fil: Nakamura, Kimitoshi. Kumamoto University; Japón Fil: Narita, Aya. Tottori University. Faculty Of Medicine; Japón Fil: Oliveri, María Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina Fil: Pastores, Gregory. The Mater Misericordiae University Hospital; Irlanda Fil: Pérez-López, Jordi. Hospital Vall d’Hebron; España Fil: Ramaswami, Uma. Universidade Federal do Rio Grande do Sul; Brasil Fil: Schwartz, Ida V.. Universidade Federal do Rio Grande do Sul; Brasil Fil: Szer, Jeff. The Royal Melbourne Hospital; Australia Fil: Weinreb, Neal J.. University of Miami; Estados Unidos Fil: Zimran, Ari. Shaare Zedek Medical Center; Israel. Hadassah Medical School; Israel