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.

Averna, M., Cefalu', A., Casula, M., Noto, D., Arca, M., Bertolini, S., et al. (2017). Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN). ATHEROSCLEROSIS SUPPLEMENTS, 29, 11-16 [10.1016/j.atherosclerosissup.2017.07.001].

Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

Averna, Maurizio
Writing – Review & Editing
;
Cefalu', Angelo Baldassare
Writing – Original Draft Preparation
;
Noto, Davide
Membro del Collaboration Group
;
Averna, Maurizio;Barbagallo, Carlo M.
Membro del Collaboration Group
;
Spina, Rossella
Membro del Collaboration Group
;
2017-01-01

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
Settore MED/09 - Medicina Interna
Averna, M., Cefalu', A., Casula, M., Noto, D., Arca, M., Bertolini, S., et al. (2017). Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN). ATHEROSCLEROSIS SUPPLEMENTS, 29, 11-16 [10.1016/j.atherosclerosissup.2017.07.001].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10447/247984
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