Authors: Juan Manuel Sánchez-Vargas, Lina Johanna Moreno-Giraldo
About this article
Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder characterized by elevated plasma cholesterol levels, specifically low-density lipoprotein (LDL) cholesterol. This condition significantly increases the risk of atherosclerotic plaque formation in coronary arteries and aorta, leading to premature cardiovascular events like angina and acute myocardial infarction. Diagnosis of FH involves clinical and genetic assessments.
The article presents the case of an asymptomatic adolescent with a family history of cardiovascular disease, including early deaths. Due to the family’s medical background and the necessity to rule out a genetic basis for the cardiovascular risk, a lipid profile was conducted, revealing elevated LDL cholesterol levels. Further genetic testing identified pathogenic variants in genes associated with FH, specifically the LDL receptor (LDLR) and the LDL receptor adaptor protein 1 (LDLRAP1) gene.