Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study

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RESEARCH PRODUCT

Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study

M. A. Casula Be B E. A. Olmastroni Be B A. C. Pirillo D Catapano D A. L. B.Author Jemail Group Lipigen M. G. Averna S. H. Bertolini S. I. Calandra P. I. Tarugi F. K. Pellegatta F. F. Angelico A. L. Bartuli G. M. Biasucci G. N. Biolo L. O. Bonanni K. P. Bonomo C. Q. Borghi A. C. R. Bossi A. S. Branchi F. T. Carubbi F. U. Cipollone N. V. Citroni M. W. Federici C. X. Ferri A. M. Y. Fiorenza A. Z. Giaccari Giorgino F. Aa Guardamagna O. Ab Iannuzzi A. Ac Iughetti L. Ad Lupattelli G. Ae Lupi A. Af Giuseppe Mandraffino G. Ag Marcucci R. Ah Maroni L. Ai Miccoli R. Aj Mombelli G. Ak Muntoni S. Al Pecchioli V. Am Pederiva C. An Pipolo A. Ao Pisciotta L. Ap Pujia A. Aq Purrello F. Ar Repetti E. As Rubba P. At Sabbà C. Au Sampietro T. Av Sarzani R. Aw Tagliabue Ax M. P. Trenti C. Ay Vigna Az G. B. Werba Ba J. P. Zambon S. Bb Zenti Bc M. G.I. F. Minicocci D. G. Noto Fortunato G. Bd Banderali G. An Benso A. Ax Bigolin P. Bb Bonora E. Bc Bruzzi P. Ad M. U. Bucci P. S. L. Buonuomo M. E. M. Capra I. W. Cardolini B. G. Cefalù N. X. Cervelli Chiariello G. Ac Cocci G. Aw E. Y. Colombo Cremonini Ap A. L.S. Q. D'addato L. F. D'erasmo Pino Dal B. Av De Sanctis L. Ab De Vita E. Ao Ben Del M. F.Di Costanzo A. F.Di Taranto Bd M. D. Fasano T. Ay Gentile L. As Gentile M. At Ghirardello O. Az L. K. Grigore Lussu M. Al G. R. Meregalli S. Z. Moffa Montalcini T. Aq Morgia V. Am F. T. Nascimbeni A. H. Pasta Pavanello C. Ak Antonino Saitta A. Ag Scicali R. Ar Siepi D. Ae W. V. Spagnolli R. G. Spina Sticchi E. Ah Suppressa P. Au Vigo L. Ba P. N. Vinci Manzato E. Bf Tragni E. Be Zampoleri V. Bg

subject

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; Familial hypercholesterolemia; Genetic testing; Adult; Age of Onset; Biomarkers; Cardiovascular Diseases; Cholesterol LDL; Female; Genetic Markers; Genetic Predisposition to Disease; Genetic Testing; Humans; Hyperlipoproteinemia Type II; Italy; Male; Middle Aged; Phenotype; Predictive Value of Tests; Prospective Studies; Reproducibility of Results; Retrospective Studies; Risk Assessment; Risk Factors; Decision Support Techniques; Mutation 3. Good health Cholesterol Phenotype Italy Cardiovascular Diseases Female Cardiology and Cardiovascular Medicine Human Adult Genetic Markers medicine.medical_specialty Dutch Lipid Clinic Network score Population Familial hypercholesterolemia Reproducibility of Result Physical examination Dutch Lipid Clinic Network score; Familial hypercholesterolemia; Genetic testing; Cardiology and Cardiovascular Medicine Risk Assessment LDL Decision Support Techniques Hyperlipoproteinemia Type II 03 medical and health sciences Predictive Value of Tests Internal medicine medicine Humans Genetic Predisposition to Disease First-degree relatives education Retrospective Studies Genetic testing Dutch Lipid Clinic Network score; Familial hypercholesterolemia; Genetic testing business.industry Risk Factor Reproducibility of Results Settore MED/13 - ENDOCRINOLOGIA Biomarker Cholesterol LDL medicine.disease Missing data Dutch Lipid Clinic Network score Familial hypercholesterolemia Genetic testing Prospective Studie Mutation Age of onset business Biomarkers

description

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.

year	journal	country	edition	language
2018-01-01

10.1016/j.atherosclerosis.2018.08.013 http://hdl.handle.net/10807/162336