– a genetic perspective
Familial Hypercholesterolemia (FH) is one of the most common inherited lipid disorders, affecting approximately 1 in 250 individuals worldwide. It is characterized by lifelong elevated low-density lipoprotein cholesterol (LDL-C), significantly increasing the risk of premature cardiovascular disease if left undiagnosed and untreated.
Because FH is inherited in an autosomal dominant pattern, each first-degree relative of an affected individual has a 50% chance of carrying the same genetic variant. Early diagnosis enables timely treatment and cascade screening of family members, helping to prevent cardiovascular complications.
Individuals with Familial Hypercholesterolemia may present with:
Some individuals remain asymptomatic until cardiovascular disease develops, making genetic testing an important diagnostic tool.
Testing is performed using high-quality Next-Generation Sequencing (NGS) technology with comprehensive analysis of coding regions and clinically relevant intronic sequences. Variants identified are interpreted according to internationally recognized clinical classification guidelines.