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

M. Casula, E. Olmastroni, A. Pirillo, A.L. Catapano, LIPIGEN Group, M. Averna, S. Bertolini, S. Calandra, P. Tarugi, F. Pellegatta, F. Angelico, A. Bartuli, G. Biasucci, G. Biolo, L. Bonanni, K. Bonomo, C. Borghi, A.C. Bossi, A. Branchi, F. Carubbi & 30 others F. Cipollone, N. Citroni, M. Federici, C. Ferri, A.M. Fiorenza, A. Giaccari, F. Giorgino, O. Guardamagna, A. Iannuzzi, L. Iughetti, G. Lupattelli, A. Lupi, G. Mandraffino, R. Marcucci, L. Maroni, R. Miccoli, G. Mombelli, S. Muntoni, R. Sarzani, M.P. Tagliabue, J.P. Werba, P. Bruzzi, P.S. Buonuomo, M.E. Capra, E. Colombo, M.D. Di Taranto, M. Gentile, L. Grigore, R. Spina, L. Vigo

Research output: Contribution to journalArticle

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

Fingerprint

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

Keywords

  • glucose
  • high density lipoprotein cholesterol
  • hydroxymethylglutaryl coenzyme A reductase inhibitor
  • low density lipoprotein cholesterol, adult
  • Article
  • Bayes theorem
  • cornea curvature
  • dutch lipid clinic network score
  • dyslipidemia
  • evaluation study
  • familial hypercholesterolemia
  • female
  • first-degree relative
  • glucose level
  • high density lipoprotein cholesterol level
  • human
  • low density lipoprotein cholesterol level
  • major clinical study
  • male
  • physical examination
  • priority journal
  • scoring system
  • xanthoma

Cite this

Casula, M., Olmastroni, E., Pirillo, A., Catapano, A. L., Group, LIPIGEN., Averna, M., ... Vigo, L. (2018). Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study. Atherosclerosis, 277, 413-418. https://doi.org/10.1016/j.atherosclerosis.2018.08.013

Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study. / Casula, M.; Olmastroni, E.; Pirillo, A.; Catapano, A.L.; Group, LIPIGEN; Averna, M.; Bertolini, S.; Calandra, S.; Tarugi, P.; Pellegatta, F.; Angelico, F.; Bartuli, A.; Biasucci, G.; Biolo, G.; Bonanni, L.; Bonomo, K.; Borghi, C.; Bossi, A.C.; Branchi, A.; Carubbi, F.; Cipollone, F.; Citroni, N.; Federici, M.; Ferri, C.; Fiorenza, A.M.; Giaccari, A.; Giorgino, F.; Guardamagna, O.; Iannuzzi, A.; Iughetti, L.; Lupattelli, G.; Lupi, A.; Mandraffino, G.; Marcucci, R.; Maroni, L.; Miccoli, R.; Mombelli, G.; Muntoni, S.; Sarzani, R.; Tagliabue, M.P.; Werba, J.P.; Bruzzi, P.; Buonuomo, P.S.; Capra, M.E.; Colombo, E.; Di Taranto, M.D.; Gentile, M.; Grigore, L.; Spina, R.; Vigo, L.

In: Atherosclerosis, Vol. 277, 2018, p. 413-418.

Research output: Contribution to journalArticle

Casula, M, Olmastroni, E, Pirillo, A, Catapano, AL, Group, LIPIGEN, Averna, M, Bertolini, S, Calandra, S, Tarugi, P, Pellegatta, F, Angelico, F, Bartuli, A, Biasucci, G, Biolo, G, Bonanni, L, Bonomo, K, Borghi, C, Bossi, AC, Branchi, A, Carubbi, F, Cipollone, F, Citroni, N, Federici, M, Ferri, C, Fiorenza, AM, Giaccari, A, Giorgino, F, Guardamagna, O, Iannuzzi, A, Iughetti, L, Lupattelli, G, Lupi, A, Mandraffino, G, Marcucci, R, Maroni, L, Miccoli, R, Mombelli, G, Muntoni, S, Sarzani, R, Tagliabue, MP, Werba, JP, Bruzzi, P, Buonuomo, PS, Capra, ME, Colombo, E, Di Taranto, MD, Gentile, M, Grigore, L, Spina, R & Vigo, L 2018, 'Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study', Atherosclerosis, vol. 277, pp. 413-418. https://doi.org/10.1016/j.atherosclerosis.2018.08.013
Casula, M. ; Olmastroni, E. ; Pirillo, A. ; Catapano, A.L. ; Group, LIPIGEN ; Averna, M. ; Bertolini, S. ; Calandra, S. ; Tarugi, P. ; Pellegatta, F. ; Angelico, F. ; Bartuli, A. ; Biasucci, G. ; Biolo, G. ; Bonanni, L. ; Bonomo, K. ; Borghi, C. ; Bossi, A.C. ; Branchi, A. ; Carubbi, F. ; Cipollone, F. ; Citroni, N. ; Federici, M. ; Ferri, C. ; Fiorenza, A.M. ; Giaccari, A. ; Giorgino, F. ; Guardamagna, O. ; Iannuzzi, A. ; Iughetti, L. ; Lupattelli, G. ; Lupi, A. ; Mandraffino, G. ; Marcucci, R. ; Maroni, L. ; Miccoli, R. ; Mombelli, G. ; Muntoni, S. ; Sarzani, R. ; Tagliabue, M.P. ; Werba, J.P. ; Bruzzi, P. ; Buonuomo, P.S. ; Capra, M.E. ; Colombo, E. ; Di Taranto, M.D. ; Gentile, M. ; Grigore, L. ; Spina, R. ; Vigo, L. / Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study. In: Atherosclerosis. 2018 ; Vol. 277. pp. 413-418.
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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. {\circledC} 2018",
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author = "M. Casula and E. Olmastroni and A. Pirillo and A.L. Catapano and LIPIGEN Group and M. Averna and S. Bertolini and S. Calandra and P. Tarugi and F. Pellegatta and F. Angelico and A. Bartuli and G. Biasucci and G. Biolo and L. Bonanni and K. Bonomo and C. Borghi and A.C. Bossi and A. Branchi and F. Carubbi and F. Cipollone and N. Citroni and M. Federici and C. Ferri and A.M. Fiorenza and A. Giaccari and F. Giorgino and O. Guardamagna and A. Iannuzzi and L. Iughetti and G. Lupattelli and A. Lupi and G. Mandraffino and R. Marcucci and L. Maroni and R. Miccoli and G. Mombelli and S. Muntoni and R. Sarzani and M.P. Tagliabue and J.P. Werba and P. Bruzzi and P.S. Buonuomo and M.E. Capra and E. Colombo and {Di Taranto}, M.D. and M. Gentile and L. Grigore and R. Spina and L. Vigo",
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TY - JOUR

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

AU - Casula, M.

AU - Olmastroni, E.

AU - Pirillo, A.

AU - Catapano, A.L.

AU - Group, LIPIGEN

AU - Averna, M.

AU - Bertolini, S.

AU - Calandra, S.

AU - Tarugi, P.

AU - Pellegatta, F.

AU - Angelico, F.

AU - Bartuli, A.

AU - Biasucci, G.

AU - Biolo, G.

AU - Bonanni, L.

AU - Bonomo, K.

AU - Borghi, C.

AU - Bossi, A.C.

AU - Branchi, A.

AU - Carubbi, F.

AU - Cipollone, F.

AU - Citroni, N.

AU - Federici, M.

AU - Ferri, C.

AU - Fiorenza, A.M.

AU - Giaccari, A.

AU - Giorgino, F.

AU - Guardamagna, O.

AU - Iannuzzi, A.

AU - Iughetti, L.

AU - Lupattelli, G.

AU - Lupi, A.

AU - Mandraffino, G.

AU - Marcucci, R.

AU - Maroni, L.

AU - Miccoli, R.

AU - Mombelli, G.

AU - Muntoni, S.

AU - Sarzani, R.

AU - Tagliabue, M.P.

AU - Werba, J.P.

AU - Bruzzi, P.

AU - Buonuomo, P.S.

AU - Capra, M.E.

AU - Colombo, E.

AU - Di Taranto, M.D.

AU - Gentile, M.

AU - Grigore, L.

AU - Spina, R.

AU - Vigo, L.

N1 - cited By 1

PY - 2018

Y1 - 2018

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. © 2018

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. © 2018

KW - glucose

KW - high density lipoprotein cholesterol

KW - hydroxymethylglutaryl coenzyme A reductase inhibitor

KW - low density lipoprotein cholesterol, adult

KW - Article

KW - Bayes theorem

KW - cornea curvature

KW - dutch lipid clinic network score

KW - dyslipidemia

KW - evaluation study

KW - familial hypercholesterolemia

KW - female

KW - first-degree relative

KW - glucose level

KW - high density lipoprotein cholesterol level

KW - human

KW - low density lipoprotein cholesterol level

KW - major clinical study

KW - male

KW - physical examination

KW - priority journal

KW - scoring system

KW - xanthoma

U2 - 10.1016/j.atherosclerosis.2018.08.013

DO - 10.1016/j.atherosclerosis.2018.08.013

M3 - Article

VL - 277

SP - 413

EP - 418

JO - Atherosclerosis

JF - Atherosclerosis

SN - 0021-9150

ER -