Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)
Maurizio Averna, Angelo B Cefalù, Manuela Casula, Davide Noto, Marcello Arca, Stefano Bertolini, Sebastiano Calandra, Alberico L Catapano, Patrizia Tarugi, LIPIGEN Group, Marcello Arca, Maurizio Averna, Stefano Bertolini, Sebastiano Calandra, Alberico Luigi Catapano, Patrizia Tarugi, Fabio Pellegatta, Francesco Angelico, Marcello Arca, Maurizio Averna, Andrea Bartuli, Giacomo Biasucci, Gianni Biolo, Luca Bonanni, Katia Bonomo, Claudio Borghi, Antonio Carlo Bossi, Adriana Branchi, Francesca Carubbi, Francesco Cipollone, Nadia Citroni, Massimo Federici, Claudio Ferri, Anna Maria Fiorenza, Andrea Giaccari, Francesco Giorgino, Ornella Guardamagna, Arcangelo Iannuzzi, Lorenzo Iughetti, Graziana Lupattelli, Giuseppe Mandraffino, Rossella Marcucci, Giuliana Mombelli, Sandro Muntoni, Valerio Pecchioli, Cristina Pederiva, Antonio Pipolo, Livia Pisciotta, Arturo Pujia, Francesco Purrello, Elena Repetti, Paolo Rubba, Carlo Sabbà, Tiziana Sampietro, Riccardo Sarzani, Milena Paola Tagliabue, Chiara Trenti, Giovanni Battista Vigna, Josè Pablo Werba, Sabina Zambon, Maria Grazia Zenti, Anna Montali, Davide Noto, Stefano Bertolini, Sebastiano Calandra, Giuliana Fortunato, Liliana Grigore, Maria Del Ben, Marianna Maranghi, Angelo B Cefalù, Carlo M Barbagallo, Paola Sabrina Buonuomo, Maria Elena Capra, Pierandrea Vinci, Sergio D'Addato, Stella Galbiati, Fabio Nascimbeni, Marco Bucci, Walter Spagnoli, Iris Cardolini, Nazzareno Cervelli, Colombo Emanuela, A Sun Vinsin, Luigi Laviola, Francesca Bello, Giuseppe Chiariello, Barbara Predieri, Donatella Siepi, Antonino Saitta, Betti Giusti, Chiara Pavanello, Milena Lussu, Lucia Prati, Giuseppe Banderali, Giulia Balleari, Tiziana Montalcini, Roberto Scicali, Luigi Gentile, Marco Gentile, Patrizia Suppressa, Francesco Sbrana, Guido Cocci, Andrea Benso, Emanuele Alberto Negri, Omar Ghirardello, Vigo Lorenzo, Alberto Zambon, Bonora Enzo, Ilenia Minicocci, Rossella Spina, Camilla Orlando, Patrizia Tarugi, Maria Donata Di Taranto, Alberico Luigi Catapano, Manuela Casula, Lorenzo Chiodo, Katia Garlaschelli, Enzo Manzato, Elena Tragni, Maurizio Averna, Angelo B Cefalù, Manuela Casula, Davide Noto, Marcello Arca, Stefano Bertolini, Sebastiano Calandra, Alberico L Catapano, Patrizia Tarugi, LIPIGEN Group, Marcello Arca, Maurizio Averna, Stefano Bertolini, Sebastiano Calandra, Alberico Luigi Catapano, Patrizia Tarugi, Fabio Pellegatta, Francesco Angelico, Marcello Arca, Maurizio Averna, Andrea Bartuli, Giacomo Biasucci, Gianni Biolo, Luca Bonanni, Katia Bonomo, Claudio Borghi, Antonio Carlo Bossi, Adriana Branchi, Francesca Carubbi, Francesco Cipollone, Nadia Citroni, Massimo Federici, Claudio Ferri, Anna Maria Fiorenza, Andrea Giaccari, Francesco Giorgino, Ornella Guardamagna, Arcangelo Iannuzzi, Lorenzo Iughetti, Graziana Lupattelli, Giuseppe Mandraffino, Rossella Marcucci, Giuliana Mombelli, Sandro Muntoni, Valerio Pecchioli, Cristina Pederiva, Antonio Pipolo, Livia Pisciotta, Arturo Pujia, Francesco Purrello, Elena Repetti, Paolo Rubba, Carlo Sabbà, Tiziana Sampietro, Riccardo Sarzani, Milena Paola Tagliabue, Chiara Trenti, Giovanni Battista Vigna, Josè Pablo Werba, Sabina Zambon, Maria Grazia Zenti, Anna Montali, Davide Noto, Stefano Bertolini, Sebastiano Calandra, Giuliana Fortunato, Liliana Grigore, Maria Del Ben, Marianna Maranghi, Angelo B Cefalù, Carlo M Barbagallo, Paola Sabrina Buonuomo, Maria Elena Capra, Pierandrea Vinci, Sergio D'Addato, Stella Galbiati, Fabio Nascimbeni, Marco Bucci, Walter Spagnoli, Iris Cardolini, Nazzareno Cervelli, Colombo Emanuela, A Sun Vinsin, Luigi Laviola, Francesca Bello, Giuseppe Chiariello, Barbara Predieri, Donatella Siepi, Antonino Saitta, Betti Giusti, Chiara Pavanello, Milena Lussu, Lucia Prati, Giuseppe Banderali, Giulia Balleari, Tiziana Montalcini, Roberto Scicali, Luigi Gentile, Marco Gentile, Patrizia Suppressa, Francesco Sbrana, Guido Cocci, Andrea Benso, Emanuele Alberto Negri, Omar Ghirardello, Vigo Lorenzo, Alberto Zambon, Bonora Enzo, Ilenia Minicocci, Rossella Spina, Camilla Orlando, Patrizia Tarugi, Maria Donata Di Taranto, Alberico Luigi Catapano, Manuela Casula, Lorenzo Chiodo, Katia Garlaschelli, Enzo Manzato, Elena Tragni
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.
Keywords: Dyslipidemias; Genetic testing; National network.
Copyright © 2017. Published by Elsevier B.V.
Source: PubMed