Familial hypercholesterolemia (FH) constitutes the most common inherited lipid disorder caused by mutations in any of the genes involved in the metabolism of low-density lipoprotein (LDL), including t Show more
Familial hypercholesterolemia (FH) constitutes the most common inherited lipid disorder caused by mutations in any of the genes involved in the metabolism of low-density lipoprotein (LDL), including the LDL receptor (LDLR), Apolipoprotein B (APOB), or Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9). FH causes increased LDL-cholesterol levels, leading to an increased risk for premature atherosclerotic cardiovascular disease. This comprehensive review aims to discuss the progress of FH management, from classic statin therapy to relatively new therapies such as PCSK9 inhibitors and emerging gene-editing technologies like CRISPR. Furthermore, the article focuses on psychosocial aspects of adherence, such as patient beliefs, cultural influences, and healthcare access, and their impact on treatment outcomes. By examining these emerging treatment approaches, this review aims to create a broader understanding of FH management, focusing on better patient care and reducing the global burden of this condition. Show less