Familial Hypercholesterolemia News and Research

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Breakthrough in CRISPR delivery promises safer gene editing

Recent research in PNAS highlights advancements in non-viral, cell-specific delivery methods for CRISPR-Cas systems, emphasizing their potential to enhance research and gene therapy applications by minimizing risks associated with off-target effects and improving targeted delivery.

7 Mar 2024

Study reveals low utilization of PCSK9 inhibitors in high-risk patients

A new study published in Circulation: Cardiovascular Quality and Outcomes from the Family Heart Foundation -; a patient-centered research and advocacy nonprofit organization dedicated to improving the lives of families impacted by inherited lipid disorders and LDL-cholesterol -; revealed that utilization of proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9i) to reduce low-density lipoprotein cholesterol (LDL-C) remains low among high-risk patients.

20 Feb 2024

Recaticimab injection every 1-3 months may safely lower bad cholesterol

A new PCSK9 inhibitor (recaticimab) injected every one to three months may work safely and provide more flexible dosing to lower cholesterol, according to late-breaking science presented today at the American Heart Association's Scientific Sessions 2023.

13 Nov 2023

CRISPR-based gene-editing therapy could offer hope for people with inherited high LDL cholesterol

A single infusion of a CRISPR-based gene-editing therapy significantly reduced low-density lipoprotein cholesterol (LDL, the "bad cholesterol") in people who carry one gene for the inherited condition that results in very high LDL cholesterol levels and a high risk of heart attack at an early age, according to late-breaking science presented today at the American Heart Association's Scientific Sessions 2023.

13 Nov 2023

Australian study shows combined genomic screening for major hereditary diseases is cost-effective and health-saving

In an Australian study published in EClinicalMedicine, researchers evaluated the impact of a combined genomic screening program for hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia in young adults. The program proved to be cost-effective, reducing healthcare costs and averting numerous health events, while emphasizing the need for further optimization and equitable access within public healthcare systems.

12 Nov 2023

Could marine plasmalogens be the secret weapon to fight Alzheimer's and Parkinson's?

The research paper reviews the potential benefits of marine plasmalogens, a type of glycerophospholipid, in combating age-related diseases like Alzheimer's and Parkinson's. These compounds, abundant in marine resources, could improve lipid metabolism and reduce oxidative stress, offering a new avenue for improving the quality of life in aging populations.

3 Sep 2023

Researchers develop novel system to identify new therapeutics for familial hypercholesterolemia

The Mona Lisa, painted by the Italian artist Leonardo da Vinci, is one of the most recognizable paintings in the world. But many people would be surprised to learn that this painting offers the first evidence of a disease called familial hypercholesterolemia (FH).

20 Jul 2023

Study reports cost-effectiveness of population genetic testing

An exhaustive cost-benefit analysis of population genetic testing published in Annals of Internal Medicine concludes with a recommendation to U.S. health policymakers to adopt routine testing of adults ages 40 and under for three genetic conditions posing high risk of life-threatening illness.

9 May 2023

Do ketogenic diets elevate low-density lipoprotein cholesterol levels?

Researchers explored the impact of ketogenic dieting on low-density lipoprotein (LDL) cholesterol levels.

27 Apr 2023

Knowing your cholesterol level can be a crucial factor in overall health

On a top 10 list of things to do, getting your cholesterol level checked likely doesn't make the cut – but no matter your age, knowing your numbers can be a crucial factor in overall health.

2 Feb 2023

Understanding the mechanisms involved in heart disease and cancers

In a crucial step towards understanding the mechanisms involved in cardiovascular disease and certain cancers, a Canadian led research team has succeeded in a world first: they've found the molecular mechanism by which the protein PCSK9 degrades the receptor of low density lipoproteins, the richest cholesterol particles in the bloodstream.

19 Jan 2023

Emory doctors join forces with the Family Heart Foundation to help patients with familial hypercholesterolemia

Doctors from the Emory Heart & Vascular Center are joining forces with the Family Heart Foundation, a leading research and advocacy organization, to find and more widely treat undiagnosed patients living with a common genetic condition that causes very high levels of unhealthy cholesterol, heightening the risk for heart attacks and strokes even at a young age.

29 Nov 2022

New analysis finds significant disparities in the treatment of familial hypercholesterolemia

The Family Heart Foundation, a leading research and advocacy organization, shared results from an analysis of its large U.S. Family Heart DatabaseTM showing significant disparities exist in the treatment of familial hypercholesterolemia (FH) among racial groups, and by income and education levels.

7 Nov 2022

ACC publishes guidance on the role of nonstatin therapies for lowering LDL-C levels

To address the current gaps in expert guidance related to the recent development and commercial availability of newer nonstatin agents, the American College of Cardiology published today an expert consensus decision pathway on the role of nonstatin therapies for LDL-C lowering in the management of atherosclerotic cardiovascular disease (ASCVD) risk reduction.

25 Aug 2022

Most familial hypercholesterolemia patients remain undiagnosed, analysis reveals

The Family Heart Foundation, a leading research and advocacy organization, completed an analysis of its large U.S. Family Heart Database showing that while the percentage of patients diagnosed with familial hypercholesterolemia (FH) has increased substantially since 2016, most remain undiagnosed.

27 Jul 2022

Geisinger researchers receive two grants to study risk factors linked with familial hypercholesterolemia

Geisinger researchers have been awarded two grants from the National Heart, Lung and Blood Institute, part of the National Institutes of Health, to study risk factors associated with familial hypercholesterolemia (FH) and ways to improve screening, diagnosis and communication with patients.

13 Jul 2022

What is the optimal LDL cholesterol level for patients with cardiovascular diseases?

In a new study, the effectiveness of low low-density lipoprotein cholesterol levels in reducing the risk of atherosclerotic vascular events was explored.

6 Jul 2022

Health screening and genetic tests may help detect people who carry a gene for familial hypercholesterolemia

Health screening and genetic tests might identify more than 1 million U.S. adults who carry a gene for familial hypercholesterolemia, a common genetic disorder that causes elevated low-density lipoprotein (LDL) cholesterol, known as "bad cholesterol," which may lead to premature heart attack or death, according to new research published today in the Journal of the American Heart Association, an open access, peer-reviewed journal of the American Heart Association.

18 May 2022

Women with familial hypercholesterolemia miss out on active treatment because of pregnancy

One in five participants were without treatment for 4 years before, during and after pregnancy. Over 9 000 people live with familial hypercholesterolemia (FH) in Norway, but another 16 000 people may have hereditary high cholesterol without knowing it.

29 Oct 2021

AHA special issue focuses on health disparities among racial, ethnic communities

Poverty and Black race were associated with higher rates of lower leg amputation among people with peripheral artery disease who live in metropolitan areas, according to new research published today in a special issue of the Journal of the American Heart Association, an open access journal of the American Heart Association.

25 Aug 2021