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.

Original languageEnglish
Pages (from-to)413-418
Number of pages6
JournalAtherosclerosis
Volume277
DOIs
Publication statusPublished - Oct 1 2018

Fingerprint

Hyperlipoproteinemia Type II
Lipids
Population
Premature Birth
Dyslipidemias
Hypercholesterolemia
Physical Examination
Coronary Disease
Medicine

Keywords

  • Dutch Lipid Clinic Network score
  • Familial hypercholesterolemia
  • Genetic testing

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

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

In: Atherosclerosis, Vol. 277, 01.10.2018, p. 413-418.

Research output: Contribution to journalArticle

@article{41212f06e9584c6aa448d5a876db5f87,
title = "Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study",
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.",
keywords = "Dutch Lipid Clinic Network score, Familial hypercholesterolemia, Genetic testing",
author = "{LIPIGEN Group} and Manuela Casula and Elena Olmastroni and Angela Pirillo and Catapano, {Alberico Luigi} and Marcello Arca and Maurizio Averna and Stefano Bertolini and Sebastiano Calandra and Patrizia Tarugi and Fabio Pellegatta and Francesco Angelico and Andrea Bartuli and Giacomo Biasucci and Gianni Biolo and Luca Bonanni and Katia Bonomo and Claudio Borghi and Bossi, {Antonio Carlo} and Adriana Branchi and Francesca Carubbi and Francesco Cipollone and Nadia Citroni and Massimo Federici and Claudio Ferri and Fiorenza, {Anna Maria} and Andrea Giaccari and Francesco Giorgino and Ornella Guardamagna and Arcangelo Iannuzzi and Lorenzo Iughetti and Graziana Lupattelli and Alessandro Lupi and Giuseppe Mandraffino and Rossella Marcucci and Lorenzo Maroni and Roberto Miccoli and Giuliana Mombelli and Sandro Muntoni and Valerio Pecchioli and Cristina Pederiva and Antonio Pipolo and Riccardo Sarzani and Werba, {Jos{\`e} Pablo} and Buonuomo, {Paola Sabrina} and Capra, {Maria Elena} and Emanuela Colombo and {Di Taranto}, {Maria Donata} and Marco Gentile and Liliana Grigore and Lorenzo Vigo",
year = "2018",
month = "10",
day = "1",
doi = "10.1016/j.atherosclerosis.2018.08.013",
language = "English",
volume = "277",
pages = "413--418",
journal = "Atherosclerosis",
issn = "0021-9150",
publisher = "Elsevier Ireland Ltd",

}

TY - JOUR

T1 - Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population

T2 - The LIPIGEN study

AU - LIPIGEN Group

AU - Casula, Manuela

AU - Olmastroni, Elena

AU - Pirillo, Angela

AU - Catapano, Alberico Luigi

AU - Arca, Marcello

AU - Averna, Maurizio

AU - Bertolini, Stefano

AU - Calandra, Sebastiano

AU - Tarugi, Patrizia

AU - Pellegatta, Fabio

AU - Angelico, Francesco

AU - Bartuli, Andrea

AU - Biasucci, Giacomo

AU - Biolo, Gianni

AU - Bonanni, Luca

AU - Bonomo, Katia

AU - Borghi, Claudio

AU - Bossi, Antonio Carlo

AU - Branchi, Adriana

AU - Carubbi, Francesca

AU - Cipollone, Francesco

AU - Citroni, Nadia

AU - Federici, Massimo

AU - Ferri, Claudio

AU - Fiorenza, Anna Maria

AU - Giaccari, Andrea

AU - Giorgino, Francesco

AU - Guardamagna, Ornella

AU - Iannuzzi, Arcangelo

AU - Iughetti, Lorenzo

AU - Lupattelli, Graziana

AU - Lupi, Alessandro

AU - Mandraffino, Giuseppe

AU - Marcucci, Rossella

AU - Maroni, Lorenzo

AU - Miccoli, Roberto

AU - Mombelli, Giuliana

AU - Muntoni, Sandro

AU - Pecchioli, Valerio

AU - Pederiva, Cristina

AU - Pipolo, Antonio

AU - Sarzani, Riccardo

AU - Werba, Josè Pablo

AU - Buonuomo, Paola Sabrina

AU - Capra, Maria Elena

AU - Colombo, Emanuela

AU - Di Taranto, Maria Donata

AU - Gentile, Marco

AU - Grigore, Liliana

AU - Vigo, Lorenzo

PY - 2018/10/1

Y1 - 2018/10/1

N2 - 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.

AB - 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.

KW - Dutch Lipid Clinic Network score

KW - Familial hypercholesterolemia

KW - Genetic testing

UR - http://www.scopus.com/inward/record.url?scp=85053847614&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85053847614&partnerID=8YFLogxK

U2 - 10.1016/j.atherosclerosis.2018.08.013

DO - 10.1016/j.atherosclerosis.2018.08.013

M3 - Article

AN - SCOPUS:85053847614

VL - 277

SP - 413

EP - 418

JO - Atherosclerosis

JF - Atherosclerosis

SN - 0021-9150

ER -