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Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study
- Source :
- Atherosclerosis
- Publication Year :
- 2018
- Publisher :
- Elsevier Ireland Ltd, 2018.
-
Abstract
- Background and aims Familial hypercholesterolemia (FH) is an inherited disorder characterized by high levels of blood cholesterol from birth and premature coronary heart disease. Thus, the identification of FH patients is crucial to prevent or delay the onset of cardiovascular events, and the availability of a tool helping with the diagnosis in the setting of general medicine is essential to improve FH patient identification. Methods This study evaluated the performance of the Dutch Lipid Clinic Network (DLCN) score in FH patients enrolled in the LIPIGEN study, an Italian integrated network aimed at improving the identification of patients with genetic dyslipidaemias, including FH. Results The DLCN score was applied on a sample of 1377 adults (mean age 42.9 ± 14.2 years) with genetic diagnosis of FH, resulting in 28.5% of the sample classified as probable FH and 37.9% as classified definite FH. Among these subjects, 43.4% had at least one missing data out of 8, and about 10.0% had 4 missing data or more. When analyzed based on the type of missing data, a higher percentage of subjects with at least 1 missing data in the clinical history or physical examination was classified as possible FH (DLCN score 3–5). We also found that using real or estimated pre-treatment LDL-C levels may significantly modify the DLCN score. Conclusions Although the DLCN score is a useful tool for physicians in the diagnosis of FH, it may be limited by the complexity to retrieve all the essential information, suggesting a crucial role of the clinical judgement in the identification of FH subjects.
- Subjects :
- Male
Settore MED/09 - Medicina Interna
Genetic testing
Predictive Value of Test
Familial hypercholesterolemia
030204 cardiovascular system & hematology
Decision Support Technique
0302 clinical medicine
Retrospective Studie
Risk Factors
Cardiovascular Disease
Genetic Marker
Prospective Studies
030212 general & internal medicine
Age of Onset
Prospective cohort study
education.field_of_study
medicine.diagnostic_test
Middle Aged
Dutch Lipid Clinic Network score
Adult
Biomarkers
Cardiovascular Diseases
Cholesterol, LDL
Female
Genetic Markers
Genetic Predisposition to Disease
Genetic Testing
Humans
Hyperlipoproteinemia Type II
Italy
Phenotype
Predictive Value of Tests
Reproducibility of Results
Retrospective Studies
Risk Assessment
Decision Support Techniques
Mutation
3. Good health
Cholesterol
Cardiology and Cardiovascular Medicine
Human
medicine.medical_specialty
Population
Reproducibility of Result
Physical examination
LDL
03 medical and health sciences
Internal medicine
medicine
First-degree relatives
education
business.industry
Risk Factor
Settore MED/13 - ENDOCRINOLOGIA
Biomarker
medicine.disease
Missing data
Dutch Lipid Clinic Network score, Familial hypercholesterolemia, Genetic testing
Prospective Studie
Age of onset
business
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Atherosclerosis
- Accession number :
- edsair.doi.dedup.....d2dde8cf7c7d308628c3ba6abcc8f12b