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

• Autores: 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, María Beatriz; Pastores, Gregory; Pérez-López, Jordi; Ramaswami, Uma; Schwartz, Ida V.; Szer, Jeff; Weinreb, Neal J.; Zimran, Ari
• Año de publicación: 2019
• Idioma: inglés
• Tipo de recurso: artículo
• Materia: ALGORITHM; INBORN ERROR; LYSOSOMAL STORAGE DISEASE; METABOLISM; SPLENOMEGALY; THROMBOCYTOPENIA
• Institución: Consejo Nacional de Investigaciones Científicas y Técnicas

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