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Initiating cholesterol-lowering therapy during childhood in familial hypercholesterolaemia substantially reduces LDL-C burden and cardiovascular risk, highlighting the importance of early diagnosis and treatment.
This study reveals that familial hypercholesterolaemia accelerates thymic ageing, reducing thymic output and altering T-cell diversity; statin therapy partially preserves thymic function, suggesting integrated metabolic-immunologic manageme
A novel prime editing screening method enables precise functional classification of LDLR gene variants, enhancing diagnosis and therapeutic strategies for familial hypercholesterolemia.
The VRONI study demonstrates the feasibility and effectiveness of combined biochemical and genetic screening for familial hypercholesterolaemia (FH) in children, revealing a higher FH prevalence than previously reported and supporting natio
A genome-first study found similar rates of pathogenic FH variants in African and European ancestry groups, but uncertain variants were more common and potentially more harmful in African ancestry individuals, highlighting the need for more
A large multi-cohort genome-first study found similar prevalence of pathogenic FH variants across ancestries, but more VUSs and greater LDL-C and myocardial infarction risk among African ancestry individuals, highlighting likely underclassi
This review analyzes evidence comparing Familial Hypercholesterolemia (FH) across ancestries, highlighting that while pathogenic variant prevalence is similar, African ancestry individuals face higher LDL-C burdens and significant risks fro
In a pooled nonrandomized phase 3 analysis, monthly lerodalcibep reduced LDL-C by about 50% in heterozygous familial hypercholesterolemia, with similar efficacy across LDLR functional variant categories and broad attainment of guideline-bas
The ORION-16 trial demonstrates that inclisiran, a twice-yearly siRNA therapy, significantly and safely reduces LDL cholesterol in adolescents with heterozygous familial hypercholesterolaemia, offering a promising solution for long-term adh
A massive cohort study of 245,388 US adults reveals that 1 in 287 carries a familial hypercholesterolemia mutation. Despite high risks for premature heart disease, most carriers remain undertreated, with fewer than 20% of those with establi
This randomized clinical trial investigates whether returning opportunistic genomic results for familial hypercholesterolemia to veterans impacts LDL-C levels. While the primary endpoint missed statistical significance, the findings suggest
A landmark Norwegian study reveals that umbilical cord LDL-C levels overlap significantly between FH and non-FH newborns, making birth screening unreliable. In contrast, LDL-C becomes highly discriminative after age one, suggesting that uni
