Familial hypercholesterolemia (FH) is one of the most common monogenic diseases,
leading to an increased risk of premature atherosclerosis and its cardiovascular …

Genetics of Familial Hypercholesterolemia (FH) is ascribable to pathogenic variants in
genes encoding proteins leading to an impaired LDL uptake by the LDL receptor (LDLR) …

Familial hypercholesterolemia (FH) is the most frequent genetic disease and is
characterized by elevation of LDL-cholesterol that accumulates in tissues leading to …

During their metabolism, all lipoproteins undergo endocytosis, either to be degraded
intracellularly, for example in hepatocytes or macrophages, or to be re-secreted, for example …

Background Familial hypercholesterolemia is characterised by high low-density lipoprotein-
cholesterol levels and is caused by a pathogenic variant in LDLR, APOB or PCSK9. We …

Abstract Purpose of Review Lipid measurements and genetic testing are the main diagnostic
tools for FH screening that are available in many countries. A lipid profile is widely …

Background Familial hypercholesterolemia (FH) may arise from deleterious monogenic
variants in FH‐causing genes as well as from a polygenic cause. We evaluated the …

Background and aims Nonalcoholic fatty liver disease (NAFLD) may be crucial in subjects
with familial hypercholesterolemia (FH). We aimed to evaluate the effect of the inhibitors of …

Familial hypercholesterolemia (FH) is the most common monogenic disorder associated
with premature atherosclerotic cardiovascular disease. Early diagnosis and effective …

Aims Familial hypercholesterolemia (FH) is the most common genetic disorder of lipid
metabolism. The gold standard for FH diagnosis is genetic testing, available, however, only …