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. The Authors 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).
From 2012 to October 2016, available biochemical and clinical information of 3,480 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, Cefalù AB, Casula M, Noto D, Arca M, Bertolini S, Calandra S, Catapano AL, Tarugi P; LIPIGEN Group. Werba P in appendix. Atheroscler Suppl 2017 Oct;29:11-16. doi: 10.1016/j.atherosclerosissup.2017.07.001. Go to PubMed