1. Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)
- Author
-
Averna, Maurizio, Cefalã¹, Angelo B., Casula, Manuela, Noto, Davide, Arca, Marcello, Bertolini, Stefano, Calandra, Sebastiano, Catapano, Alberico L., Tarugi, Patrizia, Catapano, Alberico Luigi, 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, Mandraffino, Giuseppe, Marcucci, Rossella, 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, Josà Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Fortunato, Giuliana, Grigore, Liliana, Del Ben, Maria, Maranghi, Marianna, Barbagallo, Carlo M., Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iris, Cervelli, Nazzareno, Emanuela, Colombo, Vinsin, A. Sun, Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Chiodo, Lorenzo, Garlaschelli, Katia, Manzato, Enzo, Tragni, Elena, Averna, M., Cefalu', A., Casula, M., Noto, D., Arca, M., Bertolini, S., Calandra, S., Catapano, A., Tarugi, P., Pellegatta, F., Angelico, F., Bartuli, A., Biasucci, G., Biolo, G., Bonanni, L., Bonomo, K., Borghi, C., Bossi, A., Branchi, A., Carubbi, F., Cipollone, F., Citroni, N., Federici, M., Ferri, C., Fiorenza, A., Giaccari, A., Giorgino, F., Guardamagna, O., Iannuzzi, A., Iughetti, L., Lupattelli, G., Mandraffino, G., Marcucci, R., Mombelli, G., Muntoni, S., Pecchioli, V., Pederiva, C., Pipolo, A., Pisciotta, L., Pujia, A., Purrello, F., Repetti, E., Rubba, P., Sabbã , C., Sampietro, T., Sarzani, R., Tagliabue, M., Trenti, C., Vigna, G., Werba, J., Zambon, S., Zenti, M., Montali, A., Fortunato, G., Grigore, L., Del Ben, M., Maranghi, M., Cefalã¹, A., Barbagallo, C., Buonuomo, P., Capra, M., Vinci, P., D'Addato, S., Galbiati, S., Nascimbeni, F., Bucci, M., Spagnoli, W., Cardolini, I., Cervelli, N., Emanuela, C., Vinsin, A., Laviola, L., Bello, F., Chiariello, G., Predieri, B., Siepi, D., Saitta, A., Giusti, B., Pavanello, C., Lussu, M., Prati, L., Banderali, G., Balleari, G., Montalcini, T., Scicali, R., Gentile, L., Gentile, M., Suppressa, P., Sbrana, F., Cocci, G., Benso, A., Negri, E., Ghirardello, O., Lorenzo, V., Zambon, A., Enzo, B., Minicocci, I., Spina, R., Orlando, C., Di Taranto, M., Chiodo, L., Garlaschelli, K., Manzato, E., Tragni, E., Averna, Maurizio, Cefalã¹, Angelo B., Casula, Manuela, Noto, Davide, Arca, Marcello, Bertolini, Stefano, Calandra, Sebastiano, Catapano, Alberico L., Tarugi, Patrizia, Catapano, Alberico Luigi, 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, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, Sabbã , Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josã Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Fortunato, Giuliana, Grigore, Liliana, DEL BELLO, Francesca, Maranghi, Marianna, Barbagallo, Carlo M., Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iri, Cervelli, Nazzareno, Emanuela, Colombo, Vinsin, A. Sun, Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Chiodo, Lorenzo, Garlaschelli, Katia, Manzato, Enzo, Tragni, Elena, Cefalù, Angelo B., Sabbà, Carlo, Werba, Josè Pablo, Del Ben, Maria, and Colombo, Emanuela
- Subjects
0301 basic medicine ,Candidate gene ,Genetic testing ,Settore MED/09 - Medicina Interna ,Databases, Factual ,DNA Mutational Analysis ,Disease ,Familial hypercholesterolemia ,030204 cardiovascular system & hematology ,0302 clinical medicine ,Dyslipidemias ,National network ,Internal Medicine ,Cardiology and Cardiovascular Medicine ,Risk Factors ,Prospective Studies ,Program Development ,Prospective cohort study ,medicine.diagnostic_test ,General Medicine ,Prognosis ,Cholesterol ,Phenotype ,Italy ,Genetic Markers ,medicine.medical_specialty ,MEDLINE ,Hyperlipoproteinemia Type II ,03 medical and health sciences ,Databases ,Internal medicine ,medicine ,Humans ,Genetic Predisposition to Disease ,Factual ,Retrospective Studies ,business.industry ,Settore MED/13 - ENDOCRINOLOGIA ,Retrospective cohort study ,medicine.disease ,Atherosclerosis ,Mutation ,030104 developmental biology ,Endocrinology ,Dyslipidemia ,Genetic marker ,business - Abstract
Background and aims: Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease. We set up an Italian nationwide network aimed at facilitating the clinical and genetic diagnosis of genetic dyslipidemias named LIPIGEN (LIpid TransPort Disorders Italian GEnetic Network). Methods: Observational, multicenter, retrospective and prospective study involving about 40 Italian clinical centers. Genetic testing of the appropriate candidate genes at one of six molecular diagnostic laboratories serving as nationwide DNA diagnostic centers. Results and conclusions: From 2012 to October 2016, available biochemical and clinical information of 3480 subjects with familial hypercholesterolemia identified according to the Dutch Lipid Clinic Network (DLCN) score were included in the database and genetic analysis was performed in 97.8% of subjects, with a mutation detection rate of 92.0% in patients with DLCN score >= 6. The establishment of the LIPIGEN network will have important effects on clinical management and it will improve the overall identification and treatment of primary dyslipidemias in Italy. (C) 2017 The Authors. Published by Elsevier Ireland Ltd.
- Published
- 2017