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MedXY AI/MedXY News/Tag: Familial Hypercholesterolaemia
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Familial Hypercholesterolaemia

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Advancing Familial Hypercholesterolemia Diagnosis: Activity-Normalized Prime Editing for Comprehensive LDLR Variant Classification
CardiologyChuyển hóa mỡ máuGenetic variant classification

Advancing Familial Hypercholesterolemia Diagnosis: Activity-Normalized Prime Editing for Comprehensive LDLR Variant Classification

By MedXY|Sep 6, 2026

A novel prime editing screening method enables precise functional classification of LDLR gene variants, enhancing diagnosis and therapeutic strategies for familial hypercholesterolemia.

VRONI Study: Advancing Pediatric Genetic Screening for Familial Hypercholesterolaemia to Improve Early Cardiovascular Health
CardiologyPediatrics
genetic screening

VRONI Study: Advancing Pediatric Genetic Screening for Familial Hypercholesterolaemia to Improve Early Cardiovascular Health

By MedXY|Sep 5, 2026

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 of Familial Hypercholesterolemia in African and European Ancestry Individuals
CardiologyAfrican ancestryFamilial Hypercholesterolaemia

A Genome-First Study of Familial Hypercholesterolemia in African and European Ancestry Individuals

By MedXY|Jun 10, 2026

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

Genome-First Data Suggest Familial Hypercholesterolemia Is Equally Prevalent Across African and European Ancestry Groups, but Underclassified in African Ancestry Patients
CardiologyFamilial HypercholesterolaemiaGenetic Ancestry

Genome-First Data Suggest Familial Hypercholesterolemia Is Equally Prevalent Across African and European Ancestry Groups, but Underclassified in African Ancestry Patients

By MedXY|May 31, 2026

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

Addressing the Equity Gap in Familial Hypercholesterolemia: Comparative Insights into African and European Ancestry Populations
Clinical Updatescardiovascular riskFamilial Hypercholesterolaemia

Addressing the Equity Gap in Familial Hypercholesterolemia: Comparative Insights into African and European Ancestry Populations

By MedXY|May 31, 2026

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

PCSK9 Inhibition Lowers LDL Cholesterol in Heterozygous Familial Hypercholesterolemia Regardless of LDL Receptor Variant Function
CardiologyFamilial HypercholesterolaemiaLDL Cholesterol

PCSK9 Inhibition Lowers LDL Cholesterol in Heterozygous Familial Hypercholesterolemia Regardless of LDL Receptor Variant Function

By MedXY|May 3, 2026

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

Twice-Yearly Inclisiran Transforms LDL-C Management in Adolescents with HeFH: Insights from ORION-16
CardiologyFamilial HypercholesterolaemiaInclisiran

Twice-Yearly Inclisiran Transforms LDL-C Management in Adolescents with HeFH: Insights from ORION-16

By MedXY|Mar 10, 2026

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

The Silent Genetic Threat: Why Most Patients with Familial Hypercholesterolemia Are Still Falling Through the Clinical Cracks
CardiologyASCVDFamilial Hypercholesterolaemia

The Silent Genetic Threat: Why Most Patients with Familial Hypercholesterolemia Are Still Falling Through the Clinical Cracks

By MedXY|Mar 6, 2026

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

Opportunistic Genomic Screening for Familial Hypercholesterolemia: Does Genetic Feedback Drive Clinical Change?
CardiologyCardiologyFamilial Hypercholesterolaemia

Opportunistic Genomic Screening for Familial Hypercholesterolemia: Does Genetic Feedback Drive Clinical Change?

By MedXY|Jan 16, 2026

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

Why Universal Cholesterol Screening for Familial Hypercholesterolaemia Should Wait Until Age One
Cardiologycardiovascular preventionFamilial Hypercholesterolaemia

Why Universal Cholesterol Screening for Familial Hypercholesterolaemia Should Wait Until Age One

By MedXY|Jan 3, 2026

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

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