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

2018; Elsevier BV; Volume: 277; Linguagem: Inglês

10.1016/j.atherosclerosis.2018.08.013

1879-1484

Manuela Casula, Elena Olmastroni, Angela Pirillo, Alberico L. Catapano, Marcello Arca, Maurizio Averna, Stefano Bertolini, S. Calandra, Alberico L. Catapano, Patrizia Tarugi, Fabio Pellegatta, Francesco Angelico, Marcello Arca, Maurizio Averna, Andrea Bartuli, Giacomo Biasucci, Gianni Biolo, Luca Bonanni, Katia Bonomo, Claudio Borghi, Antonio Bossi, Adriana Branchi, Francesca Carubbi, Francesco Cipollone, Nadia Citroni, Massimo Federici, Claudio Ferri, A.M. Fiorenza, Andrea Giaccari, Francesco Giorgino, Ornella Guardamagna, Marcello Arca, Lorenzo Iughetti, Graziana Lupattelli, Alessandro Lupi, Giuseppe Mandraffino, Rossella Marcucci, Lorenzo Maroni, Roberto Miccoli, Giuliana Mombelli, Sandro Muntoni, Valerio Pecchioli, Cristina Pederiva, A. E. Pípolo, Livia Pisciotta, Arturo Pujia, Francesco Purrello, Elena Repetti, Paolo Rubba, Carlo Sabbà, Tiziana Sampietro, Riccardo Sarzani, Milena Tagliabue, Chiara Trenti, Giovanni Battista Vigna, José Pablo Werba, Sabina Zambon, Maria Grazia Zenti, Ilenia Minicocci, Davide Noto, Stefano Bertolini, S. Calandra, Giuliana Fortunato, Giuseppe Banderali, Andrea Benso, Paola Bigolin, Enzo Bonora, Patrizia Bruzzi, Marco Bucci, Paola Sabrina Buonuomo, Maria Elena Capra, Iris Cardolini, Baldassarre Cefalù, Nazzareno Cervelli, Giuseppe Chiariello, Guido Cocci, Emanuela Colombo, Anna Laura Cremonini, Sergio D’Addato, Laura D’Erasmo, Beatrice Dal Pino, Luisa De Sanctis, Emanuele Vita, Maria Del Ben, Alessia Di Costanzo, Maria Donata Di Taranto, Tommaso Fasano, Luigi Gentile, Marco Gentile, Omar Ghirardello, Liliana Grigore, Milena Lussu, Giancarla Meregalli, Simona Moffa, Tiziana Montalcini, Valeria Morgia, Fabio Nascimbeni, Andrea Pasta, Chiara Pavanello, Antonino Saitta, Roberto Scicali, Donatella Siepi, Walter Spagnolli, Rossella Spina, Elena Sticchi, Patrizia Suppressa, Patrizia Tarugi, Vigo Lorenzo, Pierandrea Vinci, Alberico L. Catapano, Manuela Casula, Enzo Manzato, Elena Olmastroni, Elena Tragni, V. Zampoleri,

Atherosclerosis and Cardiovascular Diseases

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.