Recent advances in research and care of familial hypercholesterolaemia

Area of Science:

• Cardiovascular Medicine
• Genetics
• Precision Medicine

Background:

• Familial hypercholesterolaemia (FH) is an autosomal semi-dominant disorder characterized by elevated LDL cholesterol from birth.
• It leads to early-onset atherosclerotic cardiovascular disease, making it a key area for precision medicine advancements.

Purpose of the Study:

• To review contemporary knowledge of familial hypercholesterolaemia.
• To discuss unmet clinical needs and the role of precision medicine in managing FH.
• To highlight advances in risk stratification and treatment.

Main Methods:

• Review of current scientific literature on familial hypercholesterolaemia.
• Analysis of developments in genetics, risk prediction algorithms, and cardiovascular imaging.
• Evaluation of newer therapeutic strategies and implementation science models for care.

Main Results:

• Familial hypercholesterolaemia is a common condition associated with significant cardiovascular risk.
• Precision medicine approaches, including advanced imaging and risk prediction, improve patient stratification.
• Novel therapies show promise for normalizing LDL cholesterol, even in severe forms of FH.

Conclusions:

• Despite progress, familial hypercholesterolaemia is frequently underdiagnosed and undertreated, leaving many patients at high risk.
• Implementation science offers potential for more effective models of care delivery.
• Continued focus on early diagnosis and treatment is crucial for preventing cardiovascular events in FH patients.