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, José Pablo Werba

Research output: Contribution to journalArticlepeer-review


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
Publication statusPublished - Oct 2017


  • Journal Article

Fingerprint Dive into the research topics of 'Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)'. Together they form a unique fingerprint.

Cite this