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.

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, 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, 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, V. Pecchioli, C. Pederiva, A. Pipolo, L. Pisciotta, A. Pujia, F. Purrello, E. Repetti, P. Rubba, C. Sabba, T. Sampietro, R. Sarzani, M.P. Tagliabue, C. Trenti, G.B. Vigna, J.P. Werba, S. Zambon, M.G. Zenti, I. Minicocci, D. Noto, G. Fortunato, G. Banderali, A. Benso, P. Bigolin, E. Bonora, P. Bruzzi, M. Bucci, P.S. Buonuomo, M.E. Capra, I. Cardolini, B. Cefalu, N. Cervelli, G. Chiariello, G. Cocci, E. Colombo, A.L. Cremonini, S. D'Addato, L. D'Erasmo, B. Dal Pino, L. De Sanctis, E. De Vita, M. Del Ben, A. Di Costanzo, M.D. Di Taranto, T. Fasano, L. Gentile, M. Gentile, O. Ghirardello, L. Grigore, M. Lussu, G. Meregalli, S. Moffa, T. Montalcini, V. Morgia, F. Nascimbeni, A. Pasta, C. Pavanello, A. Saitta, R. Scicali, D. Siepi, W. Spagnolli, R. Spina, E. Sticchi, P. Suppressa, L. Vigo, P. Vinci, E. Manzato, E. Tragni, V. Zampoleri, M. Arca. - In: ATHEROSCLEROSIS. - ISSN 0021-9150. - 277:(2018 Oct), pp. 413-418. [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

M. Casula
Primo
;
E. Olmastroni
Secondo
;
A.L. Catapano
;
A. Branchi
Membro del Collaboration Group
;
C. Pederiva
Membro del Collaboration Group
;
M.E. Capra
Membro del Collaboration Group
;
C. Pavanello
Membro del Collaboration Group
;
V. Zampoleri
Membro del Collaboration Group
;
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.
Dutch Lipid Clinic Network score; Familial hypercholesterolemia; Genetic testing
Settore BIO/14 - Farmacologia
   Targeting epigenetic REPROGRamming of innate immune cells in Atherosclerosis Management and other chronic inflammatory diseases
   REPROGRAM
   EUROPEAN COMMISSION
   H2020
   667837

   Immunometabolic effects of apolipoprotein E: focus on the modulation of cholesterol metabolism in antigen presenting cells
   FONDAZIONE CARIPLO
   2015-0524
ott-2018
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/611374
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