Familial Hypercholesterolemia: A Comprehensive Review of Advances in Treatment Strategies and the Role of Patient Beliefs

TL;DR

This paper reviews advances in treating familial hypercholesterolemia, including new drugs and gene editing, and explores how patient beliefs affect treatment success.

Contribution

The paper provides a comprehensive overview of FH treatment strategies and emphasizes the role of psychosocial factors in treatment outcomes.

Findings

New therapies like PCSK9 inhibitors and CRISPR-based gene editing are improving FH management.

Patient beliefs and cultural factors significantly influence adherence and treatment outcomes.

Combining medical and psychosocial approaches is key to reducing the global burden of FH.

Abstract

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.