Familial hypercholesterolemia: Current limitations and future breakthroughs

Core Tip

Core Tip: Familial hypercholesterolemia (FH) is a genetic disorder characterized by significantly elevated levels of plasma low-density lipoprotein cholesterol, often leading to severe cardiovascular conditions such as acute myocardial infarction. Early detection, diagnosis, and treatment are crucial for improving patient outcomes. Despite growing awareness, over 90% of the estimated 30 million global FH cases remain undiagnosed, and many patients lack adequate treatment. Current management primarily involves statins, with additional therapies like Ezetimibe and proprotein convertase subtilisin/kexin type 9 inhibitors, though effectiveness varies, particularly in homozygous FH cases. Advancements in gene testing and precision medicine are essential for better understanding and treating FH. Future strategies include gene therapy and novel lipid-lowering drugs, alongside lifestyle modifications and genetic diagnosis for early intervention and improved prognosis.