Background The familial inherited genetic disorder of lipoprotein metabolism affects more
than 10 million individuals around the world. Lebanon is one of the several endemic areas …

Background and aims Familial hypercholesterolemia (FH) is a predominantly autosomal
dominant hereditary disorder with significant potential for expansion of coronary artery …

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 common genetic disorder associated with
premature atherosclerotic cardiovascular (CV) disease (ASCVD). However, it still is severely …

Familial hypercholesterolemia (FH) results from impaired catabolism of plasma low density
lipoproteins (LDL), thus leading to high cholesterol, atherosclerosis, and a high risk of …

Background Hypercholesterolemia is a major determinant of cardiovascular disease-
associated morbidity and mortality. Mutations in the LDL-receptor (LDLR) gene are …

Background and aims Autosomal recessive hypercholesterolemia (ARH) is a very rare
disease, caused by mutations in LDL protein receptor adaptor 1 (LDLRAP1). It is …

Background: FH, a hereditary disorder, is caused by pathogenic variants in the LDLR,
APOB, and PCSK9 genes. This study has assessed genetic variants in a family, clinically …

Familial hypercholesterolaemia (FH) results from defective catabolism of low density
lipoproteins (LDL), leading to premature atherosclerosis and early coronary heart disease. It …

Background and aim Previous studies have shown that patients with autosomal recessive
hypercholesterolemia (ARH) resulting from mutations in LDLRAP1 gene have a less severe …