Familial hypercholesterolemia: Current limitations and future breakthroughs

Abstract

Familial hypercholesterolemia (FH) is characterized by elevated low-density lipoprotein cholesterol levels due to genetic mutations, presenting with xanthomas, corneal arch, and severe cardiovascular diseases. Early identification, diagnosis, and treatment are crucial to prevent severe complications like acute myocardial infarction. Statins are the primary treatment, supplemented by Ezetimibe and proprotein convertase subtilisin/kexin type 9 inhibitors, though their effectiveness can be limited in severe cases. Over 90% of FH cases remain undiagnosed, and current treatments are often inadequate, underscoring the need for improved diagnostic and management systems. Future strategies include advancements in gene testing, precision medicine, and novel drugs, along with gene therapy approaches like AAV-mediated gene therapy and clustered regularly interspaced short palindromic repeats. Lifestyle modifications, including health education, dietary control, and regular exercise, are essential for managing FH and preventing related diseases. Research into FH-related gene mutations, especially LDLR, is critical for accurate diagnosis and effective treatment.

Keywords: Breakthroughs; Familial hypercholesterolemia; Genetic mutations; Limitations; Treatment.