Artigo Acesso aberto

Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

2017; Elsevier BV; Volume: 29; Linguagem: Inglês

10.1016/j.atherosclerosissup.2017.07.001

ISSN

1878-5050

Autores

Maurizio Averna, Angelo B. Cefalù, Manuela Casula, Davide Noto, Marcello Arca, Stefano Bertolini, S. Calandra, Alberico L. Catapano, Patrizia Tarugi, 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, Giuseppe Mandraffino, Rossella Marcucci, 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, Anna Montali, Davide Noto, Stefano Bertolini, S. 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, Emanuela Colombo, 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, Enzo Bonora, Ilenia Minicocci, Rossella Spina, Camilla Orlando, Patrizia Tarugi, Maria Donata Di Taranto, Alberico L. Catapano, Manuela Casula, Lorenzo Chiodo, K. Garlaschelli, Enzo Manzato, Elena Tragni,

Tópico(s)

Lipid metabolism and disorders

Resumo

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). 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. 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.

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