Familial hypercholesterolemia

– a genetic perspective

Familial hypercholesterolemia

Accurate Genetic Diagnosis

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.

CLINICAL FEATURES

Individuals with Familial Hypercholesterolemia may present with:

  • Persistently elevated LDL cholesterol levels
  • Tendon xanthomas (cholesterol deposits in tendons)
  • Corneal arcus at a young age
  • Premature coronary artery disease, often before 55 years in men or 60 years in women
  • Family history of hypercholesterolemia or early cardiovascular disease

Some individuals remain asymptomatic until cardiovascular disease develops, making genetic testing an important diagnostic tool.

Methodology

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.