Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

Maurizio Averna, Angelo B. Cefalù, Manuela Casula, Davide Noto, Marcello Arca, Stefano Bertolini, Sebastiano Calandra, Alberico Luigi Catapano, Patrizia Tarugi, Marcello Arca, Maurizio Averna, Stefano Bertolini, Sebastiano Calandra, Alberico Luigi Catapano, Patrizia Tarugi, Fabio Pellegatta, Francesco Angelico, Marcello Arca, Maurizio Averna, Andrea BartuliGiacomo 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, Riccardo Sarzani, Josè Pablo Werba, Liliana Grigore, Paola Sabrina Buonuomo, Maria Elena Capra, Marco Gentile, Maria Donata Di Taranto, Alberico Luigi Catapano, LIPIGEN Group

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)11-16
Number of pages6
JournalAtherosclerosis Supplements
Volume29
DOIs
Publication statusPublished - Oct 1 2017

Keywords

  • Dyslipidemias
  • Genetic testing
  • National network

ASJC Scopus subject areas

  • Internal Medicine
  • Cardiology and Cardiovascular Medicine

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    Averna, M., Cefalù, A. B., Casula, M., Noto, D., Arca, M., Bertolini, S., Calandra, S., Catapano, A. L., Tarugi, P., Arca, M., Averna, M., Bertolini, S., Calandra, S., Catapano, A. L., Tarugi, P., Pellegatta, F., Angelico, F., Arca, M., Averna, M., ... LIPIGEN Group (2017). Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN). Atherosclerosis Supplements, 29, 11-16. https://doi.org/10.1016/j.atherosclerosissup.2017.07.001