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.

Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN) / Averna, Maurizio; Cefalã¹, Angelo B.; Casula, Manuela; Noto, Davide; Arca, Marcello; Bertolini, Stefano; Calandra, Sebastiano; Catapano, Alberico L.; Tarugi, Patrizia; Arca, Marcello; Averna, Maurizio; Bertolini, Stefano; Calandra, Sebastiano; Catapano, Alberico Luigi; Tarugi, Patrizia; Pellegatta, Fabio; Angelico, Francesco; Arca, Marcello; Averna, Maurizio; 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, Josà Pablo; Zambon, Sabina; Zenti, Maria Grazia; Montali, Anna; Noto, Davide; Bertolini, Stefano; Calandra, Sebastiano; Fortunato, Giuliana; Grigore, Liliana; Del Ben, Maria; Maranghi, Marianna; Cefalã¹, Angelo B.; 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; Tarugi, Patrizia; Di Taranto, Maria Donata; Catapano, Alberico Luigi; Casula, Manuela; Chiodo, Lorenzo; Garlaschelli, Katia; Manzato, Enzo; Tragni, Elena. - In: ATHEROSCLEROSIS SUPPLEMENTS. - ISSN 1567-5688. - 29:(2017), pp. 11-16. [10.1016/j.atherosclerosissup.2017.07.001]

Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

Averna, Maurizio;Calandra, Sebastiano;Tarugi, Patrizia;Averna, Maurizio;Calandra, Sebastiano;Tarugi, Patrizia;Averna, Maurizio;Carubbi, Francesca;Iughetti, Lorenzo
Investigation
;
Purrello, Francesco;Calandra, Sebastiano;Nascimbeni, Fabio;Predieri, Barbara
Investigation
;
Gentile, Luigi;Gentile, Marco;Tarugi, Patrizia;
2017

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.
2017
29
11
16
Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN) / Averna, Maurizio; Cefalã¹, Angelo B.; Casula, Manuela; Noto, Davide; Arca, Marcello; Bertolini, Stefano; Calandra, Sebastiano; Catapano, Alberico L.; Tarugi, Patrizia; Arca, Marcello; Averna, Maurizio; Bertolini, Stefano; Calandra, Sebastiano; Catapano, Alberico Luigi; Tarugi, Patrizia; Pellegatta, Fabio; Angelico, Francesco; Arca, Marcello; Averna, Maurizio; 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, Josà Pablo; Zambon, Sabina; Zenti, Maria Grazia; Montali, Anna; Noto, Davide; Bertolini, Stefano; Calandra, Sebastiano; Fortunato, Giuliana; Grigore, Liliana; Del Ben, Maria; Maranghi, Marianna; Cefalã¹, Angelo B.; 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; Tarugi, Patrizia; Di Taranto, Maria Donata; Catapano, Alberico Luigi; Casula, Manuela; Chiodo, Lorenzo; Garlaschelli, Katia; Manzato, Enzo; Tragni, Elena. - In: ATHEROSCLEROSIS SUPPLEMENTS. - ISSN 1567-5688. - 29:(2017), pp. 11-16. [10.1016/j.atherosclerosissup.2017.07.001]
Averna, Maurizio; Cefalã¹, Angelo B.; Casula, Manuela; Noto, Davide; Arca, Marcello; Bertolini, Stefano; Calandra, Sebastiano; Catapano, Alberico L.; ...espandi
File in questo prodotto:
File Dimensione Formato  
òIèIGEN2.pdf

Open access

Tipologia: Versione pubblicata dall'editore
Dimensione 752.37 kB
Formato Adobe PDF
752.37 kB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

Licenza Creative Commons
I metadati presenti in IRIS UNIMORE sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono rilasciati con licenza Attribuzione 4.0 Internazionale (CC BY 4.0), salvo diversa indicazione.
In caso di violazione di copyright, contattare Supporto Iris

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/1150472
Citazioni
  • ???jsp.display-item.citation.pmc??? 29
  • Scopus 60
  • ???jsp.display-item.citation.isi??? 53
social impact