Homozygous familial hypercholesterolemia

Homozygous familial hypercholesterolemia is a rare, life-threatening genetic metabolic disorder affecting the cardiovascular system, caused by biallelic pathogenic mutations in genes critical to low-density lipoprotein clearance, most commonly the low-density lipoprotein receptor gene

Homozygous familial hypercholesterolemia is a rare, life-threatening genetic metabolic disorder affecting the cardiovascular system, caused by biallelic pathogenic mutations in genes critical to low-density lipoprotein clearance, most commonly the low-density lipoprotein receptor gene This condition primarily manifests in children and young adults and is pathophysiologically defined by absent or severely blunted low-density lipoprotein receptor function, resulting in profound elevations of circu...

This condition primarily manifests in children and young adults and is pathophysiologically defined by absent or severely blunted low-density lipoprotein receptor function, resulting in profound elevations of circulating low-density lipoprotein cholesterol typically exceeding 400 to 500 mg/dL

Clinically, affected individuals develop physical signs of lipid deposition—such as cutaneous planar, tendon, or tuberous xanthomas and corneal arcus—alongside accelerated, premature atherosclerotic cardiovascular disease, aortic stenosis, and ischemic cardiac events often presenting before the second or third decade of life

Clinically, affected individuals develop physical signs of lipid deposition—such as cutaneous planar, tendon, or tuberous xanthomas and corneal arcus—alongside accelerated, premature atherosclerotic cardiovascular disease, aortic stenosis, and ischemic cardiac events often presenting before the second or third decade of life