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

Pehrsson, Minja; Heikkinen, Hanna; Wartiovaara‐Kautto, Ulla; Mäntylahti, Sampo; Bäckström, Pia; Lassenius, Mariann I.; Uusi-Rauva, Kristiina; Carpén, Olli; Elomaa, Kaisa

doi:10.1016/j.ymgmr.2022.100911

Molecular Genetics and Metabolism Reports

2022

DOI: 10.1016/j.ymgmr.2022.100911

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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

Minja Pehrsson¹,

Hanna Heikkinen²,

Ulla Wartiovaara‐Kautto³

et al.

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2024

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Cited by 2 publications

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“…The reasons behind this underdiagnosis may include limited awareness among healthcare professionals, overlapping symptoms with other conditions, and the lack of routine screening protocols. [9][10][11] In general, most of the efforts are placed in pediatric and high-symptoms burden populations, 12-14 and the adult setting often remains a white spot for diagnosis and treatment. An Italian study has already demonstrated that basic attention to peculiar signs and symptoms and remote history during the routine clinical examination may identify mild and mod-…”

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confidence: 99%

Expert consensus guideline on the diagnosis of type 1 Gaucher disease in adult patients

De Vivo,

Marconi,

Tumedei

et al. 2024

Ital J Med

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Gaucher disease (GD) is a rare genetic disorder characterized by glucocerebrosidase deficiency. Over 50% of patients with mild disease go undiagnosed, suggesting that GD diagnosis rates are still significantly low despite advancements in medical knowledge and diagnostic techniques. This guideline explores the potential settings in which patients with mild to moderate GD may present, providing professional guidance on diagnostic avenues and highlighting the necessity of raising awareness among medical professionals. Patients with undiagnosed GD may be seen in departments such as neurology, transfusion medicine, centers for hepatic disorders, orthopedics, hemostasis, thrombosis, benign and general hematology, and reference centers for these conditions. Therefore, for a timely diagnosis and appropriate management of this rare disorder, it is crucial that these specialties collaborate effectively and devise a path that avoids needless and invasive procedures.

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mentioning

confidence: 99%

Expert consensus guideline on the diagnosis of type 1 Gaucher disease in adult patients

De Vivo,

Marconi,

Tumedei

et al. 2024

Ital J Med

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Assessing the diagnostic utility of the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system using real-world data

Revel-Vilk,

Shalev,

Gill

et al. 2024

Orphanet J Rare Dis

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Background Gaucher disease (GD) is a rare autosomal recessive condition associated with clinical features such as splenomegaly, hepatomegaly, anemia, thrombocytopenia, and bone abnormalities. Three clinical forms of GD have been defined based on the absence (type 1, GD1) or presence (types 2 and 3) of neurological signs. Early diagnosis can reduce the likelihood of severe, often irreversible complications. The aim of this study was to validate the ability of factors from the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system to discriminate between patients with GD1 and controls using real-world data from electronic patient medical records from Maccabi Healthcare Services, Israel’s second-largest state-mandated healthcare provider. Methods We applied the GED-C scoring system to 265 confirmed cases of GD and 3445 non-GD controls matched for year of birth, sex, and socioeconomic status identified from 1998 to 2022. The analyses were based on two databases: (1) all available data and (2) all data except free-text notes. Features from the GED-C scoring system applicable to GD1 were extracted for each individual. Patients and controls were compared for the proportion of the specific features and overall GED-C scores. Decision tree and random forest models were trained to identify the main features distinguishing GD from non-GD controls. Results The GED-C scoring distinguished individuals with GD from controls using both databases. Decision tree models for the databases showed good accuracy (0.96 [95% CI 0.95–0.97] for Database 1; 0.95 [95% CI 0.94–0.96] for Database 2), high specificity (0.99 [95% CI 0.99–1]) for Database 1; 1.0 [95% CI 0.99–1] for Database 2), but relatively low sensitivity (0.53 [95% CI 0.46–0.59] for Database 1; 0.32 [95% CI 0.25–0.38]) for Database 2). The clinical features of splenomegaly, thrombocytopenia (< 50 × 109/L), and hyperferritinemia (300–1000 ng/mL) were found to be the three most accurate classifiers of GD in both databases. Conclusion In this analysis of real-world patient data, certain individual features of the GED-C score discriminate more successfully between patients with GD and controls than the overall score. An enhanced diagnostic model may lead to earlier, reliable diagnoses of Gaucher disease, aiming to minimize the severe complications associated with this disease.

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Cited by 2 publications

References 18 publications

Expert consensus guideline on the diagnosis of type 1 Gaucher disease in adult patients

Expert consensus guideline on the diagnosis of type 1 Gaucher disease in adult patients

Assessing the diagnostic utility of the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system using real-world data

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