Improving the detection of familial hypercholesterolaemia

Area of Science:

• Cardiovascular Medicine
• Genetics
• Metabolic Disorders

Background:

• Familial hypercholesterolaemia (FH) is a prevalent autosomal dominant condition causing lifelong high LDL-cholesterol.
• Untreated FH accelerates atherosclerosis, leading to premature cardiovascular disease.
• Despite effective treatments like statins and PCSK9 inhibitors, most FH cases remain undiagnosed.

Purpose of the Study:

• To review recent advancements in the detection of Familial hypercholesterolaemia.
• To discuss emerging strategies and challenges in FH identification over the next decade.
• To emphasize the clinical importance of diagnosing FH for cardiovascular risk management.

Main Methods:

• Review of current literature on FH detection methods.
• Analysis of electronic screening tools, universal and targeted screening approaches.
• Evaluation of genomic technology's impact on genetic testing and cascade screening.

Main Results:

• Multiple strategies exist for FH detection, including electronic screening and genetic testing.
• Genomic advances have reduced testing costs and improved understanding of FH pathogenesis.
• Despite progress, significant gaps remain in clinician and public awareness of FH.

Conclusions:

• Optimizing FH detection is critical for early intervention and preventing cardiovascular events.
• Integrated strategies combining screening, genetic testing, and awareness campaigns are needed.
• Addressing diagnostic challenges will improve management of this common genetic lipid disorder.