Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

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.

Evaluation of Cardiovascular Risk Factors In Patients With Familial Hypercholesterolemia From The North-Eastern Area of Romania

“…In our study, regarding the traditional cardiovascular risk factors, we identi ed that high blood pressure (50.8%) was the main factor in all patients, followed by sedentary lifestyle (49.2%), which results in obesity (36.1%), smoker (29.5%), personal cardiovascular history (23%) and last but not least type 2 diabetes balanced by diet or antidiabetic drugs (13%). In the LIPIGEN multicenter study from Italy the personal history for the premature coronary disease had a prevalence of 11.3%, and the peripheral vascular diseases a prevalence of 9.6% (22), while in our study the prevalence of the 2 pathologies was much higher (CHD were found in 21.3% of patients and PAD in 14.8%). Hypertension was the main cardiovascular risk factor, followed by sedentary lifestyle and obesity in women and smoking in men.…”

A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia

“…Patients with a clinical picture and a family history of Familial Combined Hyperlipidemia were excluded [12,13]. Reported data are integrated into LIPIGEN, an Italian registry of patients with familial dyslipidemias [14][15][16].…”

A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia

“…Sperlongano et al [30] Pang et al [28] Abul-Husn et al [21] Jones et al [27] Wang et al [63] Rubio-Marín et al [36] Improved total blood cholesterol levels 0.01 Sperlongano et al [30] Vohnout et al [29] Setia et al [32] Pang et al [28] Averna et al [60] Wu et al [33] Rubio-Marín et al [36] Alver et al [39] Genetic counseling 5. 63 Averna et al [60] Jones et al [27] None reported 86.…”