Carola Giacobbe

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: A GOF effect of 2 PCSK9 variants that can be considered as FH-causative variants are demonstrated, highlighting the important role played by functional characterization in integrating diagnostic procedures when the pathogenicity of new variants has not been previously demonstrated.

TL;DR: In addition to LDL cholesterol and Dutch Lipid Clinic Network score, carotid plaques in ultrasound evaluation provide direct evidence of premature vascular disease and are associated with high risk for cardiovascular events.

TL;DR: The results highlight that the sterol profile and genetic analyses are essential to make the diagnosis of CTX and to exclude other dyslipidemias.

TL;DR: Homozygous familial hypercholesterolemia patients showed higher basal LDL-cholesterol and a poorer response to therapy compared with compound heterozygotes, highlighting the role of genetic screening in differentiating one genetic status from the other.