GuidelineInternal medicine journal2019
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.
Guideline in Internal medicine journal, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 63 citations in OpenAlex.
- Diagnostic Delay in Gaucher Disease and the Role of Gastroenterology in the Diagnostic Journey: A Real-World Cohort Study.Journal of clinical medicine · 2026Article
- The global impact of imiglucerase therapy in children with Gaucher disease types 1 and 3: a real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.Orphanet journal of rare diseases · 2026Article
- Exploring delayed diagnosis in Gaucher disease: insights from a community survey and potential solutions.Orphanet journal of rare diseases · 2026Article
- The Gaucher Earlier Diagnosis Consensus point-scoring system for children and young adults: a retrospective and prospective evaluation in Korea.Orphanet journal of rare diseases · 2025Article
- Gaucher disease, state of the art and perspectives.Journal of internal medicine · 2025Review
- Obstacles to Early Diagnosis of Gaucher Disease.Therapeutics and clinical risk management · 2025Review
- Machine Learning-Driven Biomarker Discovery for Skeletal Complications in Type 1 Gaucher Disease Patients.International journal of molecular sciences · 2024Article
- Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient Registry.Journal of clinical medicine · 2024Article
- Assessing the diagnostic utility of the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system using real-world data.Orphanet journal of rare diseases · 2024Article
- Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study.Biomedicines · 2023Article
- FindZebra online search delving into rare disease case reports using natural language processing.PLOS digital health · 2023Article
- Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study.Frontiers in medicine · 2023Article
- Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks.Molecular genetics and metabolism reports · 2022Article
- Glucosylsphingosine (Lyso-GbInternational journal of molecular sciences · 2022Article
- Wnt signaling pathway inhibitors, sclerostin and DKK-1, correlate with pain and bone pathology in patients with Gaucher disease.Frontiers in endocrinology · 2022Article
- Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus.Frontiers in neurology · 2022Article
- Long-term safety and effectiveness of velaglucerase alfa in Gaucher disease: 6-year interim analysis of a post-marketing surveillance in Japan.Orphanet journal of rare diseases · 2021Article
- C-X-C Motif Chemokine Ligand 9 and Its CXCR3 Receptor Are the Salt and Pepper for T Cells Trafficking in a Mouse Model of Gaucher Disease.International journal of molecular sciences · 2021Article
- Article
- Economic burden and health related quality of life of ultra-rare Gaucher disease in China.Orphanet journal of rare diseases · 2021Article
Corrections and comments
- Erratum issuedCorrigendum.2019
Authors and funding
25 authors at 20 institutions in 16 countries.
Funding
Abstract
backgroundGaucher 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.
aimThe 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.
methodsAn 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.
resultsFor 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.
conclusionThe 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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.