1. Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study
- Author
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Casula, M. a., B, Be, Olmastroni, E. a., Pirillo, A. c., Catapano, D, A. L. b., D, Jemail, Author, Lipigen, Group, Averna, M. g., Bertolini, S. h., Calandra, S. i., Tarugi, P. i., Pellegatta, F. k., Angelico, F. f., Bartuli, A. l., Biasucci, G. m., Biolo, G. n., Bonanni, L. o., Bonomo, K. p., Borghi, C. q., Bossi, A. C. r., Branchi, A. s., Carubbi, F. t., Cipollone, F. u., Citroni, N. v., Federici, M. w., Ferri, C. x., Fiorenza, A. M. y., Giaccari, A. z., Giorgino, Aa, F., Guardamagna, Ab, O., Iannuzzi, Ac, A., Iughetti, Ad, L., Lupattelli, Ae, G., Lupi, Af, A., Mandraffino, Giuseppe, Ag, G., Marcucci, Ah, R., Maroni, Ai, L., Miccoli, Aj, R., Mombelli, Ak, G., Muntoni, Al, S., Pecchioli, Am, V., Pederiva, An, C., Pipolo, Ao, A., Pisciotta, Ap, L., Pujia, Aq, A., Purrello, Ar, F., Repetti, As, E., Rubba, At, P., Sabbà, Au, C., Sampietro, Av, T., Sarzani, Aw, R., Tagliabue, M. P., Ax, Trenti, Ay, C., Vigna, G. B., Az, Werba, J. P., Ba, Zambon, Bb, S., Zenti, M. G., Bc, Minicocci, I. f., Noto, D. g., Fortunato, Bd, G., Banderali, An, G., Benso, Ax, A., Bigolin, Bb, P., Bonora, Bc, E., Bruzzi, Ad, P., Bucci, M. u., Buonuomo, P. S. l., Capra, M. E. m., Cardolini, I. w., Cefalù, B. g., Cervelli, N. x., Chiariello, Ac, G., Cocci, Aw, G., Colombo, E. y., Cremonini, A. L., Ap, D'Addato, S. q., D'Erasmo, L. f., Dal, Pino, Av, B., Sanctis, De, Ab, L., Vita, De, Ao, E., Del, Ben, M. f., Costanzo, Di, A. f., Taranto, Di, M. D., Bd, Fasano, Ay, T., Gentile, As, L., At, M., Ghirardello, Az, O., Grigore, L. k., Lussu, Al, M., Meregalli, G. r., Moffa, S. z., Montalcini, Aq, T., Morgia, Nascimbeni, F. t., Pasta, A. h., Pavanello, Ak, C., Saitta, Antonino, Ag, A., Scicali, Ar, R., Siepi, Ae, D., Spagnolli, W. v., Spina, R. g., Sticchi, Ah, E., Suppressa, Au, P., Vigo, Ba, L., Vinci, P. n., Manzato, Bf, E., Tragni, Be, E., Zampoleri, Bg, V., Casula, Manuela, Olmastroni, Elena, Pirillo, Angela, Catapano, Alberico Luigi, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Lupi, Alessandro, Mandraffino, Giuseppe, Marcucci, Rossella, Maroni, Lorenzo, Miccoli, Roberto, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, Sabbà, Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josè Pablo, Zambon, Sabina, Zenti, Maria Grazia, Minicocci, Ilenia, Noto, Davide, Fortunato, Giuliana, Banderali, Giuseppe, Benso, Andrea, Bigolin, Paola, Bonora, Enzo, Bruzzi, Patrizia, Bucci, Marco, Buonuomo, Paola Sabrina, Capra, Maria Elena, Cardolini, Iri, Cefalù, Baldassarre, Cervelli, Nazzareno, Chiariello, Giuseppe, Cocci, Guido, Colombo, Emanuela, Cremonini, Anna Laura, D'Addato, Sergio, D'Erasmo, Laura, Dal Pino, Beatrice, De Sanctis, Luisa, De Vita, Emanuele, Del Ben, Maria, Di Costanzo, Alessia, Di Taranto, Maria Donata, Fasano, Tommaso, Gentile, Luigi, Gentile, Marco, Ghirardello, Omar, Grigore, Liliana, Lussu, Milena, Meregalli, Giancarla, Moffa, Simona, Montalcini, Tiziana, Morgia, Valeria, Nascimbeni, Fabio, Pasta, Andrea, Pavanello, Chiara, Saitta, Antonino, Scicali, Roberto, Siepi, Donatella, Spagnolli, Walter, Spina, Rossella, Sticchi, Elena, Suppressa, Patrizia, Vigo, Lorenzo, Vinci, Pierandrea, Manzato, Enzo, Tragni, Elena, Zampoleri, Veronica, D'addato, Sergio, D'erasmo, Laura, Casula, M, Olmastroni, E, Pirillo, A, Catapano, A, Averna, M, Noto, D, Cefalu, B, and Spina, R
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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 ,Adult ,Biomarkers ,Cardiovascular Diseases ,Cholesterol, LDL ,Female ,Genetic Markers ,Genetic Predisposition to Disease ,Genetic Testing ,Humans ,Hyperlipoproteinemia Type II ,Italy ,Phenotype ,Predictive Value of Tests ,Reproducibility of Results ,Retrospective Studies ,Risk Assessment ,Decision Support Techniques ,Mutation ,3. Good health ,Cholesterol ,Cardiology and Cardiovascular Medicine ,Human ,medicine.medical_specialty ,Population ,Reproducibility of Result ,Physical examination ,LDL ,03 medical and health sciences ,Internal medicine ,medicine ,First-degree relatives ,education ,business.industry ,Risk Factor ,Settore MED/13 - ENDOCRINOLOGIA ,Biomarker ,medicine.disease ,Missing data ,Dutch Lipid Clinic Network score, Familial hypercholesterolemia, Genetic testing ,Prospective Studie ,Age of onset ,business - 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.
- Published
- 2018