Structural and functional studies of the gene coding for the low density lipoprotein receptor in patients with familial hypercholesterolemia have uncovered over 180 mutant alleles of the gene. Although the classical familial hypercholesterolemia phenotype is well known, the range of phenotypic variability in lipid traits associated with particular mutations in familial hypercholesterolemia has ...

Background—Homozygous familial hypercholesterolemia is an inherited disorder caused by mutations in both low-density lipoprotein receptor alleles, which results in extremely elevated plasma low-density lipoprotein cholesterol concentrations and very early morbidity and mortality due to cardiovascular disease. Methods and Results—To evaluate the impact of advances in lipid-lowering (predominantl...

BACKGROUND Homozygous familial hypercholesterolemia is an inherited disorder caused by mutations in both low-density lipoprotein receptor alleles, which results in extremely elevated plasma low-density lipoprotein cholesterol concentrations and very early morbidity and mortality due to cardiovascular disease. METHODS AND RESULTS To evaluate the impact of advances in lipid-lowering (predominan...

Backgroud: Heterozygous familial hypercholesterolemia are either classical cases with high LDL-C levels, tendon xanthomas and LDL receptor gene mutation or probable cases with hypercholesterolemia without known LDL receptor gene mutations. Aims & Objectives: This study was done to compare the severity of hypercholesterolemia and risk of CVD in classical and probable cases of heterozygous famili...

The profoundly elevated concentrations of low-density lipoproteins (LDL) present in homozygous familial hypercholesterolemia lead to symptomatic cardiovascular disease and death by early adulthood. Studies conducted in nonhepatic tissues demonstrated defective cellular recognition and metabolism of LDL in these patients. Since mammalian liver removes at least half of the LDL in the circulation,...

Familial hypercholesterolemia and familial ligand-defective apolipoprotein B-100 (FDB) are dominantly inherited disorders leading to impaired low-density lipoprotein receptor (LDLR) and apolipoprotein B-100 (APOB) interaction, plasma LDL elevation, and hypercholesterolemia. We previously identified the first French FDB-R3531C proband, a woman with very high total cholesterol, in a group of type...

Familial hypercholesterolemia is a disease characterized by mutations in the low-density lipoprotein receptor. Total cholesterol levels >500 mg/dL and >350 are associated with early atherosclerosis. In these patients, incidence of coronary artery high first decade life, it often emerges adolescence. Herein, we present 14-year-old female familial who underwent left main osteoplasty pulmona...

Familial hypercholesterolemia is a metabolic disorder inherited as an autosomal dominant trait characterized by an increased plasma low density lipoprotein (LDL) level. It has been demonstrated that the disease is caused by several different mutations in the LDL receptor gene. Although early identification of individuals carrying the defective gene could be useful in reducing the risk of athero...

Objective: The higher risk and fatality of cardiovascular disease in subjects with homozygous familial hypercholesterolemia warrants early screening. Computed tomography angiography is the most promising method at present as a reliable and reproducible noninvasive diagnostic test of cardiovascular disease. We aimed to describe the 64-slice multidetector computed tomography coronary angiography ...