Maria Donata Di Taranto

TL;DR: This study shows the molecular characteristics of the FH patients identified in Italy over the last two years and finds two patients were homozygous for pathogenic variants in LDLRAP1 gene resulting in autosomal recessive hypercholesterolemia.

TL;DR: An Italian nationwide network aimed at facilitating the clinical and genetic diagnosis of genetic dyslipidemias named LIPIGEN (LIpid TransPort Disorders Italian GEnetic Network) will have important effects on clinical management and it will improve the overall identification and treatment of primary dyslipemic disorders in Italy.

TL;DR: Patients with a null variant in LDLR gene showed higher LDL-cholesterol levels and higher risk for coronary artery disease than patients with a defective variant, and pathogenic variants in several lipid-related genes causing different dyslipidemias were found among FH patients.

TL;DR: The evidence on the pro-inflammatory role of Gal-3 in the atherogenic process as well as the association with plaque features linked to lesion stability are discussed, highlighting its involvement in the development of cardiac fibrosis and impaired myocardium remodelling, resulting in heart failure and atrial fibrillation.

TL;DR: Although the DLCN score is a useful tool for physicians in the diagnosis of FH, it may be limited by the complexity to retrieve all the essential information, suggesting a crucial role of the clinical judgement in the identification of Fh subjects.