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

8 Citations (Scopus)

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

Fingerprint

Inborn Genetic Diseases
Hyperlipoproteinemia Type II
Atherosclerosis
Lipids
Dyslipidemias
Genetic Databases
Molecular Pathology
Genetic Testing
Mutation Rate
Italy
Lipoproteins
Multicenter Studies
Observational Studies
Cardiovascular Diseases
Retrospective Studies
Prospective Studies
DNA
Genes

Keywords

  • Dyslipidemias
  • Genetic testing
  • National network

ASJC Scopus subject areas

  • Internal Medicine
  • Cardiology and Cardiovascular Medicine

Cite this

Averna, M., Cefalù, A. B., Casula, M., Noto, D., Arca, M., Bertolini, S., ... 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

Familial hypercholesterolemia : The Italian Atherosclerosis Society Network (LIPIGEN). / Averna, Maurizio; Cefalù, Angelo B.; Casula, Manuela; Noto, Davide; Arca, Marcello; Bertolini, Stefano; Calandra, Sebastiano; Catapano, Alberico Luigi; 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; Sarzani, Riccardo; Werba, Josè Pablo; Grigore, Liliana; Buonuomo, Paola Sabrina; Capra, Maria Elena; Gentile, Marco; Di Taranto, Maria Donata; Catapano, Alberico Luigi; LIPIGEN Group.

In: Atherosclerosis Supplements, Vol. 29, 01.10.2017, p. 11-16.

Research output: Contribution to journalArticle

Averna, M, Cefalù, AB, Casula, M, Noto, D, Arca, M, Bertolini, S, Calandra, S, Catapano, AL, Tarugi, P, Arca, M, Averna, M, Bertolini, S, Calandra, S, Catapano, AL, Tarugi, P, Pellegatta, F, Angelico, F, Arca, M, Averna, M, Bartuli, A, Biasucci, G, Biolo, G, Bonanni, L, Bonomo, K, Borghi, C, Bossi, AC, Branchi, A, Carubbi, F, Cipollone, F, Citroni, N, Federici, M, Ferri, C, Fiorenza, AM, Giaccari, A, Giorgino, F, Guardamagna, O, Iannuzzi, A, Iughetti, L, Lupattelli, G, Mandraffino, G, Marcucci, R, Mombelli, G, Sarzani, R, Werba, JP, Grigore, L, Buonuomo, PS, Capra, ME, Gentile, M, Di Taranto, MD, Catapano, AL & LIPIGEN Group 2017, 'Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)', Atherosclerosis Supplements, vol. 29, pp. 11-16. https://doi.org/10.1016/j.atherosclerosissup.2017.07.001
Averna, Maurizio ; Cefalù, Angelo B. ; Casula, Manuela ; Noto, Davide ; Arca, Marcello ; Bertolini, Stefano ; Calandra, Sebastiano ; Catapano, Alberico Luigi ; 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 ; Sarzani, Riccardo ; Werba, Josè Pablo ; Grigore, Liliana ; Buonuomo, Paola Sabrina ; Capra, Maria Elena ; Gentile, Marco ; Di Taranto, Maria Donata ; Catapano, Alberico Luigi ; LIPIGEN Group. / Familial hypercholesterolemia : The Italian Atherosclerosis Society Network (LIPIGEN). In: Atherosclerosis Supplements. 2017 ; Vol. 29. pp. 11-16.
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T1 - Familial hypercholesterolemia

T2 - The Italian Atherosclerosis Society Network (LIPIGEN)

AU - Averna, Maurizio

AU - Cefalù, Angelo B.

AU - Casula, Manuela

AU - Noto, Davide

AU - Arca, Marcello

AU - Bertolini, Stefano

AU - Calandra, Sebastiano

AU - Catapano, Alberico Luigi

AU - Tarugi, Patrizia

AU - Arca, Marcello

AU - Averna, Maurizio

AU - Bertolini, Stefano

AU - Calandra, Sebastiano

AU - Catapano, Alberico Luigi

AU - Tarugi, Patrizia

AU - Pellegatta, Fabio

AU - Angelico, Francesco

AU - Arca, Marcello

AU - Averna, Maurizio

AU - Bartuli, Andrea

AU - Biasucci, Giacomo

AU - Biolo, Gianni

AU - Bonanni, Luca

AU - Bonomo, Katia

AU - Borghi, Claudio

AU - Bossi, Antonio Carlo

AU - Branchi, Adriana

AU - Carubbi, Francesca

AU - Cipollone, Francesco

AU - Citroni, Nadia

AU - Federici, Massimo

AU - Ferri, Claudio

AU - Fiorenza, Anna Maria

AU - Giaccari, Andrea

AU - Giorgino, Francesco

AU - Guardamagna, Ornella

AU - Iannuzzi, Arcangelo

AU - Iughetti, Lorenzo

AU - Lupattelli, Graziana

AU - Mandraffino, Giuseppe

AU - Marcucci, Rossella

AU - Mombelli, Giuliana

AU - Sarzani, Riccardo

AU - Werba, Josè Pablo

AU - Grigore, Liliana

AU - Buonuomo, Paola Sabrina

AU - Capra, Maria Elena

AU - Gentile, Marco

AU - Di Taranto, Maria Donata

AU - Catapano, Alberico Luigi

AU - LIPIGEN Group

PY - 2017/10/1

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N2 - 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.

AB - 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.

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KW - Genetic testing

KW - National network

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