Heterozygous familial hypercholesterolemia

Heterozygous familial hypercholesterolemia is an inherited genetic metabolic disorder of lipid metabolism characterized by life-long, severely elevated circulating levels of low-density lipoprotein cholesterol Caused by a single pathogenic variant inherited from one parent—most commonly in the low-density lipoprotein receptor (*LDLR*), apolipoprotein B (*APOB*), or *PCSK9* genes—the condition impairs normal hepatic low-density lipoprotein clearance This chronic lipid accumulation affects the vas...

Heterozygous familial hypercholesterolemia is an inherited genetic metabolic disorder of lipid metabolism characterized by life-long, severely elevated circulating levels of low-density lipoprotein cholesterol

Caused by a single pathogenic variant inherited from one parent—most commonly in the low-density lipoprotein receptor (*LDLR*), apolipoprotein B (*APOB*), or *PCSK9* genes—the condition impairs normal hepatic low-density lipoprotein clearance

Caused by a single pathogenic variant inherited from one parent—most commonly in the low-density lipoprotein receptor (*LDLR*), apolipoprotein B (*APOB*), or *PCSK9* genes—the condition impairs normal hepatic low-density lipoprotein clearance This chronic lipid accumulation affects the vascular and integumentary systems, significantly accelerating systemic atherosclerosis and predisposing affected individuals to premature coronary artery disease, early myocardial infarction, and extravascular de...

This chronic lipid accumulation affects the vascular and integumentary systems, significantly accelerating systemic atherosclerosis and predisposing affected individuals to premature coronary artery disease, early myocardial infarction, and extravascular deposits such as tendon xanthomas and corneal arcus