Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative
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- Atul Mehta
- Lysosomal Storage Disorders Unit, Department of Haematology Royal Free Hospital, UCL Medical School London UK
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- David J. Kuter
- Center for Hematology Massachusetts General Hospital, Harvard Medical School Boston Massachusetts USA
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- Sam S. Salek
- School of Life and Medical Sciences, University of Hertfordshire Hatfield UK
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- Nadia Belmatoug
- Referral Center for Lysosomal Diseases, University Hospital Paris Nord Val de Seine, site Beaujon, Clichy Paris France
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- Bruno Bembi
- Centre for Rare Diseases Academic Medical Centre Hospital of Udine Udine Italy
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- Jeremy Bright
- Research Evaluation Unit Oxford PharmaGenesis Ltd Oxford UK
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- Stephan vom Dahl
- Department of Gastroenterology, Hepatology and Infectious Diseases Heinrich‐Heine University Düsseldorf Germany
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- Federica Deodato
- Division of Metabolism, Department of Pediatric Specialist Bambino Gesù Children's Hospital, IRCCS Rome Italy
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- Maja Di Rocco
- Unit of Rare Diseases, Department of Pediatrics IRCCS Giannina Gaslini Institute Genoa Italy
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- Ozlem Göker‐Alpan
- Lysosomal Disorders Unit and CFCT O and O Alpan LLC Fairfax Virginia USA
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- Derralynn A. Hughes
- Lysosomal Storage Disorders Unit, Department of Haematology Royal Free Hospital, UCL Medical School London UK
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- Elena A. Lukina
- Department of Orphan Diseases National Research Center for Hematology Moscow Russia
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- Maciej Machaczka
- Medical Faculty University of Rzeszow Rzeszow Poland
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- Eugen Mengel
- Villa Metabolica Center of Pediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz Mainz Germany
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- Aabha Nagral
- Department of Gastroenterology Jaslok Hospital and Research Centre Mumbai India
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- Kimitoshi Nakamura
- Department of Pediatrics Graduate School of Medical Sciences, Kumamoto University Kumamoto Japan
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- Aya Narita
- Department of Child Neurology Faculty of Medicine, Tottori University Yon ago Japan
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- Beatriz Oliveri
- Osteoporosis and Metabolic Bone Diseases Laboratory, Institute of Immunology, Genetics, and Metabolism (INIGEM) CONICET ‐ UBA Buenos Aires Argentina
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- Gregory Pastores
- University College Dublin, The Mater Misericordiae University Hospital Dublin Ireland
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- Jordi Pérez‐López
- Unit of Rare Diseases, Hospital Vall d'Hebron Barcelona Spain
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- Uma Ramaswami
- Lysosomal Storage Disorders Unit, Department of Haematology Royal Free Hospital, UCL Medical School London UK
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- Ida V. Schwartz
- Medical Genetics Service – HCPA, Genetics Department UFRGS Porto Alegre Brazil
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- Jeff Szer
- Department of Clinical Haematology, Bone Marrow Transplant Service The Royal Melbourne Hospital Melbourne Victoria Australia
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- Neal J. Weinreb
- Department of Human Genetics and Medicine (Hematology) University of Miami Miller School of Medicine, UHealth Sylvester Coral Springs Coral Springs Florida USA
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- Ari Zimran
- Shaare Zedek Medical Center and Hadassah Medical School Jerusalem Israel
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説明
<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Aim</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>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 <jats:italic>a priori</jats:italic>.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>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.</jats:p></jats:sec>
収録刊行物
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- Internal Medicine Journal
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Internal Medicine Journal 49 (5), 578-591, 2019-05
Wiley
- Tweet
キーワード
- SPLENOMEGALY
- Consensus
- Delphi Technique
- Prognosi
- 610
- thrombocytopenia
- algorithm.
- LYSOSOMAL STORAGE DISEASE
- METABOLISM
- inborn error
- Physicians
- https://purl.org/becyt/ford/3.2
- Humans
- ALGORITHM
- https://purl.org/becyt/ford/3
- :enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::enfermedades cerebrales metabólicas::enfermedades cerebrales metabólicas congénitas::enfermedades por almacenamiento lisosómico del sistema nervioso::esfingolipidosis::enfermedad de Gaucher [ENFERMEDADES]
- splenomegaly
- Gaucher Disease
- THROMBOCYTOPENIA
- :Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Brain Diseases, Metabolic::Brain Diseases, Metabolic, Inborn::Lysosomal Storage Diseases, Nervous System::Sphingolipidoses::Gaucher Disease [DISEASES]
- Original Articles
- Gaucher, Malaltia de
- :Ciencias de la información::análisis de sistemas::técnica Delfos [CIENCIA DE LA INFORMACIÓN]
- :diagnóstico::diagnóstico precoz [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS]
- Early Diagnosis
- lysosomal storage disease
- INBORN ERROR
- :Information Science::Systems Analysis::Delphi Technique [INFORMATION SCIENCE]
- metabolism
- :Diagnosis::Early Diagnosis [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT]
詳細情報 詳細情報について
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- CRID
- 1360021393304739840
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- ISSN
- 14455994
- 14440903
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- HANDLE
- 11336/116167
- 11343/253352
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- PubMed
- 31387147
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- データソース種別
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- Crossref
- OpenAIRE