{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T20:49:06Z","timestamp":1790887746045,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,12,22]],"date-time":"2020-12-22T00:00:00Z","timestamp":1608595200000},"content-version":"vor","delay-in-days":21,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Internal Medicine Journal"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Gaucher disease (GD) manifests heterogeneously and other conditions are often misdiagnosed in its place, leading to diagnostic delays. The Gaucher Earlier Diagnosis Consensus (GED\u2010C) initiative proposed a point\u2010scoring system (PSS) based on the signs and covariables that are most indicative of GD to help clinicians identify which individuals to test for GD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aims<\/jats:title><jats:p>To validate the PSS retrospectively in a test population including patients with GD and other conditions with overlapping manifestations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Four cohorts of adults with GD, liver disease, haematological malignancy or immune thrombocytopenia were identified from hospital records. Clinical data were audited for GED\u2010C factors identified as potentially indicative of GD and aggregate scores calculated (sum of scores\/number of factors) based on published PSS weightings. Threshold discriminatory PSS scores, sensitivity and specificity were determined by receiver\u2010operating characteristic analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 100 patients (GD, <jats:italic>n<\/jats:italic> =\u200925; non\u2010GD, <jats:italic>n<\/jats:italic> =\u200975), analyses based on 11 possible factors estimated group mean (standard deviation) PSS scores of: GD (<jats:italic>n<\/jats:italic> =\u200914), 1.08 (0.25); non\u2010GD (<jats:italic>n<\/jats:italic> =\u200938), 0.58 (0.31). Mean between\u2010group difference (95% confidence interval) was \u22120.49 (\u22120.68, \u22120.31) and area under the receiver\u2010operating characteristic analysis curve (95% confidence interval) was 0.88 (0.78, 0.97). A threshold PSS score of 0.82 identified all 14 patients with GD in the analysis set (100% sensitivity) and 27 of 38 patients in the non\u2010GD group (71% specificity). Patients with liver disease and haematological malignancy were most likely to have manifestations overlapping GD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Preliminary validation of the GED\u2010C PSS discriminated effectively between patients with GD and those with overlapping signs.<\/jats:p><\/jats:sec>","DOI":"10.1111\/imj.14942","type":"journal-article","created":{"date-parts":[[2020,11,11]],"date-time":"2020-11-11T06:20:29Z","timestamp":1605075629000},"page":"1538-1546","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Scoring system to facilitate diagnosis of Gaucher disease"],"prefix":"10.1111","volume":"50","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6474-9959","authenticated-orcid":false,"given":"Atul","family":"Mehta","sequence":"first","affiliation":[{"name":"Department of Haematology University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Rivero\u2010Arias","sequence":"additional","affiliation":[{"name":"Nuffield Department of Population Health, National Perinatal Epidemiology Unit University of Oxford  Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magy","family":"Abdelwahab","sequence":"additional","affiliation":[{"name":"Department of Paediatric Haematology Cairo University Paediatric Hospital  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha","family":"Campbell","sequence":"additional","affiliation":[{"name":"Department of Hepatology and Gastroenterology, Royal Free Hospital University College London School of Medicine  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annabel","family":"McMillan","sequence":"additional","affiliation":[{"name":"Department of Haematology, Royal Free Hospital University College London School of Medicine  London 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