Category: Cardiovascular Genetics

Introduction Familial Hypercholesterolemia (FH) is a genetic disorder of lipid metabolism characterized by extremely high levels of low-density lipoprotein cholesterol (LDL-C) from birth. While FH is widely studied in adults due to its strong association with premature coronary artery disease (CAD) and myocardial infarction, its manifestation in children is increasingly recognized as a serious, early-onset…

Introduction Familial hypercholesterolemia (FH) is one of the most common inherited metabolic disorders, characterized by lifelong elevation of low-density lipoprotein cholesterol (LDL-C) and a markedly increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Despite its high prevalence—affecting approximately 1 in 200–250 individuals globally—FH remains grossly underdiagnosed and undertreated. Timely identification of FH is critical. Individuals…

Introduction Familial Hypercholesterolemia (FH) is one of the most common inherited metabolic disorders, characterized by lifelong elevation of low-density lipoprotein cholesterol (LDL-C) and dramatically increased cardiovascular risk. The disease is caused by genetic mutations that impair the clearance of LDL-C from plasma, most often involving the LDL receptor pathway. FH occurs in two major forms:…

Introduction Lipid metabolism is a cornerstone of cardiovascular physiology. Fats and lipoproteins not only serve as energy reservoirs but also play essential roles in cell membrane structure, steroid hormone synthesis, and signaling pathways. However, when lipid metabolism is disturbed, it can drive atherosclerosis and cardiovascular disease—the leading cause of mortality worldwide. One of the most…

Introduction Familial hypercholesterolemia (FH) is a genetic lipid disorder characterized by markedly elevated plasma low-density lipoprotein cholesterol (LDL-C) levels from birth, leading to premature atherosclerotic cardiovascular disease (ASCVD). Unlike polygenic or lifestyle-driven hypercholesterolemia, FH is a monogenic disorder, most commonly caused by mutations in one of three genes: Together, mutations in these genes impair clearance…

Introduction Cardiovascular diseases remain the leading cause of morbidity and mortality across the globe, with elevated cholesterol being a well-established risk factor. While diet, lifestyle, and environmental influences play major roles in hypercholesterolemia, genetics can also profoundly shape lipid metabolism. Familial Hypercholesterolemia (FH) is one such example—a hereditary disorder that leads to extremely high levels…