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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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66 hot topic(s) found with the query "Lipoprotein a"

Heart Disease Risk Higher with Genetic Variant Plus Even Slightly Elevated Cholesterol
Inside Precision Medicine, February 2, 2023 (Posted: Feb 03, 2024 8AM)

From the article: " Even people with moderately elevated low-density lipoprotein cholesterol (LDL-C) have higher risk of heart disease if they also had a variant for familial hypercholesterolemia (FH), according to new research. The long-term study included over 20,000 patients and reinforces the value of genetic testing for this condition."

Dose-Response Associations of Lipid Traits With Coronary Artery Disease and Mortality.
Guoyi Yang et al. JAMA Netw Open 2024 1 (1) e2352572 (Posted: Jan 20, 2024 10AM)

From the abstract: "Do apolipoprotein B (apoB), low-density lipoprotein cholesterol (LDL-C), and triglycerides (TG) increase risk of coronary artery disease (CAD), all-cause mortality, or cause-specific mortality, and if so, what are the shapes of these associations? In this genetic association study using mendelian randomization including 347?797 participants of European ancestry from UK Biobank, genetically predicted apoB and LDL-C were positively associated with CAD, all-cause mortality, and cardiovascular mortality, all in a dose-dependent way. Genetically predicted TG was positively associated with CAD, although the presence of pleiotropy was suggested. "

Mediating Factors in the Association of Maternal Educational Level With Pregnancy Outcomes: A Mendelian Randomization Study.
Tormod Rogne et al. JAMA Netw Open 2024 1 (1) e2351166 (Posted: Jan 12, 2024 6AM)

From the abstract: " Which pathways mediate the inequity in pregnancy health associated with low educational attainment? In this cohort study of more than 3 million individuals, an association between genetically estimated lower educational attainment and increased risk of ectopic pregnancy, hyperemesis gravidarum, gestational diabetes, preeclampsia, preterm birth, and offspring low birth weight was observed. A sizeable portion of these associations were explained by targetable risk factors. These findings suggest that the association of socioeconomic inequalities with adverse pregnancy outcomes may be reduced by intervening for type 2 diabetes, body mass index, smoking, high-density lipoprotein cholesterol level, and systolic blood pressure."

First trial of 'base editing' in humans lowers cholesterol - but raises safety concerns.
Miryam Naddaf et al. Nature 2023 11 (Posted: Nov 14, 2023 9AM)

From the paper: "The first trial in humans of the precise gene-editing technique known as base editing has shown promising results for keeping cholesterol levels in check in patients with familial hypercholesterolemia. The approach injects into people a treatment called VERVE-101, which permanently deactivates a gene in the liver called PCSK9. That gene controls the level of low-density lipoprotein (LDL), or ‘bad’ cholesterol — a key contributor to heart disease. But the findings have also drawn criticism. Two serious adverse events in the trial, including a death, have raised safety concerns. "

Lipoprotein(a), platelet function and cardiovascular disease.
Harpreet S Bhatia et al. Nat Rev Cardiol 2023 11 (Posted: Nov 11, 2023 4PM)

From the abstract: " Lipoprotein(a) (Lp(a)) independently contributes to atherothrombosis through several mechanisms, including putative antifibrinolytic properties. However, genetic association studies and experimental studies have not demonstrated an association between high Lp(a) levels in the plasma and the risk of venous thromboembolism or clot properties, respectively."

Concordance of a High Lipoprotein(a) Concentration Among Relatives.
Laurens F Reeskamp et al. JAMA Cardiol 2023 10 (Posted: Oct 13, 2023 1PM)

From the abstract: "What is the prevalence of high lipoprotein(a) concentrations (=125 nmol/L) in first- and second-degree relatives of individuals with high lipoprotein(a) levels? In this cross-sectional study, 1607 of 3420 (47.0%) first-degree relatives of UK Biobank participants with a lipoprotein(a) concentration at least 125 nmol/L were similarly affected, compared with 4974 of 30 258 (16.4%) unrelated individuals. Cascade screening of first-degree relatives of individuals with high lipoprotein(a) levels, if implemented at scale, is likely to identify a substantial number of additional high-risk individuals. "

Is Lipoprotein(a) Clinically Actionable with Today's Evidence? The Answer is Yes.
Gary S Ma et al. Curr Cardiol Rep 2023 8 (Posted: Aug 29, 2023 11AM)

From the abstract: "Lipoprotein(a) is an independent risk factor for cardiovascular disease. We review the ongoing shifts in consensus guidelines for the testing and management of Lp(a) and provide insight into whether current evidence suggests that awareness and testing of Lp(a) is clinically actionable."

Familial hypercholesterolaemia
S McErlean, BMJ, July 2023 (Posted: Jul 16, 2023 9AM)

Familial hypercholesterolemia is a common genetic condition affecting 1 in 310 people, resulting in premature coronary artery disease due to elevated cholesterol levels from birth If a parent has familial hypercholesterolemia, there is a 50% chance their child will inherit the condition. Treatment is based on lowering low density lipoprotein (LDL) cholesterol concentration, with a target of at least 50% reduction from baseline.

Contemporary Polygenic Scores of Low-Density Lipoprotein Cholesterol and Coronary Artery Disease Predict Coronary Atherosclerosis in Adolescents and Young Adults.
Rodrigo Guarischi-Sousa et al. Circ Genom Precis Med 2023 7 e004047 (Posted: Jul 10, 2023 8AM)

When Is a High Lipoprotein (a) Concentration Too High?-The Need for Diverse Population-Based Samples.
Sadiya S Khan et al. JAMA Cardiol 2023 5 (Posted: May 27, 2023 6AM)

Preclinical, epidemiologic, and genomic studies identify lipoprotein (a) (Lp[a]) as a risk factor for atherosclerotic cardiovascular disease (ASCVD). Lp(a) is a low-density lipoprotein (LDL)–like particle that is bound to apolipoprotein(a) and is causally implicated in the pathogenesis of ASCVD. Despite growing evidence supporting the potential utility of Lp(a) in risk stratification for ASCVD, challenges remain in defining a cut point for what constitutes a high Lp(a) concentration. These include variation observed in Lp(a) concentrations across racial and ethnic groups, as well as differences in accuracy across various assays.

New Family Heart Foundation Study Reveals Systemic Underdiagnosis & Undertreatment of HoFH
Family Heart Foundation, May 2, 2023 (Posted: May 04, 2023 8AM)

A new study showed the diagnosis and treatment of homozygous familial hypercholesterolemia (HoFH) is delayed, and often occurs after a heart attack or early atherosclerotic cardiovascular disease (ASCVD). HoFH is a rare disease and is the most severe form of the common inherited genetic disorder called familial hypercholesterolemia (FH). HoFH leads to severely elevated low density lipoprotein cholesterol (LDL-C) from birth onward. While some with the highest LDL-C are diagnosed with HoFH in childhood, many others are missed, denying them the opportunity for timely initiation of aggressive lipid-lowering therapies (LLT) and resulting in premature cardiovascular disease.

Novel and future lipid-modulating therapies for the prevention of cardiovascular disease.
Julia Brandts et al. Nat Rev Cardiol 2023 4 (Posted: Apr 15, 2023 8AM)

Key proteins involved in lipoprotein metabolism, such as PCSK9, angiopoietin-related protein 3, cholesteryl ester transfer protein and apolipoprotein(a), have been identified as viable targets for therapeutic intervention through observational and genetic studies. These proteins can be targeted using a variety of approaches, such as protein inhibition or interference, inhibition of translation at the mRNA level. These novel and upcoming strategies are complementary to and could work synergistically with existing therapies, or in some cases could potentially replace therapies, offering unprecedented opportunities to prevent ASCVD.

Know Your Risk for High Cholesterol
CDC Information, February 2023 Brand (Posted: Feb 08, 2023 9AM)

Some people have an inherited genetic condition called FH. This condition causes very high low-density lipoprotein (LDL, or “bad”) cholesterol levels beginning at a young age that, left untreated, continue to worsen with age. An estimated 1 million U.S. adults have confirmed or probable FH.1 Worldwide, about 1 in 313 people are estimated to have FH. If someone in your family has a heart attack early in life, talk with your health care team about your own and your other family members’ risk for FH and whether your family should get tested. Your health care team may talk with you about lifestyle changes you can make to help lower or manage your cholesterol levels. Often, though, FH can’t be treated with lifestyle changes alone. You may need medicine, such as statin therapy or other medicine, to manage your cholesterol levels.

Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.
Jacqueline S Dron et al. JAMA cardiology 2023 2 (Posted: Feb 02, 2023 6AM)

What is the prevalence of protein-truncating variants (PTVs) in the apolipoprotein B (APOB) or proprotein convertase subtilisin/kexin type 9 (PCSK9) genes and their association with low-density lipoprotein (LDL) cholesterol levels and coronary heart disease (CHD)? In this genetic association study including 19?073 US participants and 190?464 UK participants, a PTV was identified in 0.4% of individuals. Estimated untreated LDL cholesterol concentrations were 32% to 37% lower in PTV carriers vs noncarriers, and PTVs were associated with a 49% reduction in CHD risk.

Cardiovascular Disease Risk Prediction in Young Adults—The Next Frontier
SS Khan et al, JAMA Cardiology, December 28, 2022 (Posted: Dec 28, 2022 0PM)

A recent study highlights the need to focus on risk prediction in younger adults. This warrants a life course perspective that incorporates both lifetime risk and expected treatment benefit. Before considering the addition of PRS in the subset of individuals aged 40 to 49 years with borderline to intermediate risk, strategies for risk estimation should rigorously evaluate clinical utility of 30-year risk assessment based on traditional risk factors, dynamic changes in risk factor levels, and causal factors (apolipoprotein B, lipoprotein[a]).

Small Interfering RNA to Reduce Lipoprotein(a) in Cardiovascular Disease.
O'Donoghue Michelle L et al. The New England journal of medicine 2022 11 (Posted: Nov 17, 2022 10AM)

Lipoprotein(a) is a presumed risk factor for atherosclerotic cardiovascular disease. Olpasiran is a small interfering RNA that reduces lipoprotein(a) synthesis in the liver. We conducted a randomized, double-blind, placebo-controlled, dose-finding trial involving patients with established atherosclerotic cardiovascular disease and a lipoprotein(a) concentration of more than 150 nmol per liter. Olpasiran therapy significantly reduced lipoprotein(a) concentrations in patients with established atherosclerotic cardiovascular disease. Longer and larger trials will be necessary to determine the effect of olpasiran therapy on cardiovascular disease.

Familial Hypercholesterolemia Screening in Children and Adolescents in the United States: Where Are We Heading?
M Clyne et al, CDC Blog Post, October 14, 2022 Brand (Posted: Oct 14, 2022 10AM)

Familial Hypercholesterolemia (FH) is a genetic condition that results in elevated levels of low-density lipoprotein cholesterol (LDL-C) from birth, resulting in increased risk of heart disease and myocardial infarction. A 2021 blog from our office highlighted the prevalence of FH, diagnostic strategies, treatment management of those with FH, and the public health importance of identifying people with FH. The blog highlights the benefit of earlier age of diagnosis since recommendations for prevention of atherosclerotic cardiovascular disease (ASCVD) includes treatment to lower LDL-C at a younger age.

Measuring Lipoprotein(a) in Clinical Practice to Reduce the Burden of Cardiovascular Disease? Still Work in Progress.
J Osei et al, CDC Blog Post, August 9, 2022 Brand (Posted: Aug 10, 2022 8AM)

A recent review suggested that the use of lipoprotein (Lp) (a) measurement in clinical practice may have clinical and economic benefits for patients, healthcare systems, and society as a whole. However, widespread adoption of Lp(a) measurement in the general population has been hindered by limited treatment options targeting Lp(a) reduction.

Impact of a Population Genomic Screening Program on Health Behaviors Related to Familial Hypercholesterolemia Risk Reduction.
Jones Laney K et al. Circulation. Genomic and precision medicine 2022 101161CIRCGEN121003549 (Posted: Jul 26, 2022 9AM)

We conducted a retrospective cohort study of MyCode participants with an FH risk variant beginning 2 years before disclosure until January 16, 2019. We analyzed lipid-lowering prescriptions (clinician behavior), medication adherence (participant behavior), and LDL (low-density lipoprotein) cholesterol levels (health outcome impact) pre- and post-disclosure. Data were collected from electronic health records and claims. Despite disclosure of an FH risk variant, nonprescribing and nonadherence to lipid-lowering therapy remained high. However, when clinicians intensified medication regimens and participants adhered to medications, lipid levels decreased.

Everyone deserves a diagnosis
The Family Heart Foundation, July 18, 2022 (Posted: Jul 20, 2022 0PM)

“Runs in the family” is not a diagnosis- Over the past 10 years, we have heard from thousands of people who have heart disease or had a stroke caused by an inherited cholesterol disorder. Unfortunately, they did not learn of their genetic condition until it was too late. The damage was done. They were told that heart disease or high cholesterol “runs in the family” but were never given the name of the genetic cause that leads to so much heartache across generations. We believe families deserve a diagnosis so they can get the care they deserve. That is why we have launched this campaign. We hope you will join us to help reach people who have never heard of FH or elevated Lipoprotein(a).

Lipoprotein (a)
CDC, June 29, 2022 Brand (Posted: Jun 28, 2022 4PM)

High levels of lipoprotein (a) increase your likelihood of having a heart attack, a stroke, and aortic stenosis, especially if you have familial hypercholesterolemia or signs of coronary heart disease. High Lp(a) levels, defined as greater than 50 mg/dL (125 nmol/L),3 are common. Median Lp(a) levels vary by race and sex.4 High Lp(a) is seen in people of all races and ethnicities but appears to be more common in Black people.4 Many people with high Lp(a) have no symptoms. However, your doctor may suspect that you have high Lp(a) if you have one or more risk factors such as family history, familial hypercholesterolemia, peripheral artery disease and others.

How should public health recommendations address Lp(a) measurement, a causative risk factor for cardiovascular disease (CVD)?
Catapano Alberico L et al. Atherosclerosis 2022 3 136-143 (Posted: Jun 11, 2022 1PM)

We conducted a structured literature review to identify the economic and health benefits and costs of measuring the Lp(a) concentration, potential barriers hindering the uptake of the measure, and potential solutions to address them. These findings were then discussed in an advisory board attended by experts and patient organisations. We found that if Lp(a) concentration is measured more widely today, patients, healthcare system and society would experience clinical and economic benefits even before specific Lp(a) lowering pharmacological treatments become available. Furthermore, a wider uptake of the Lp(a) measurement would support the development of epidemiological data.

Transferability of genetic risk scores in African populations
AB Kamiza et al, Nature Medicine, June 2, 2022 (Posted: Jun 03, 2022 10AM)

Using summary statistics from the Million Veteran Program (MVP), we showed that GRSs derived from data of African American individuals enhance polygenic prediction of lipid traits in SSA compared to European and multiancestry scores. However, our GRS prediction varied greatly within SSA between the South African Zulu (low-density lipoprotein cholesterol (LDL-C), R2?=?8.14%) and Ugandan cohorts (LDL-C, R2?=?0.026%). We postulate that differences in the genetic and environmental factors between these population groups might lead to the poor transferability of GRSs within SSA. More effort is required to optimize polygenic prediction in Africa.

Coronary Heart Disease, Family History and Public Health: From Familial Hypercholesterolemia to Elevated Lipoprotein A
CDC Public Health Genomics Webinar, October 24, 2022 Brand (Posted: May 25, 2022 11AM)

Familial hypercholesterolemia (FH), a genetic disorder of cholesterol metabolism affecting millions of people, has emerged as public health genomics priority for preventing premature morbidity and mortality from heart disease. In addition, elevated lipoprotein (a) (Lp(a)) increases the risk of coronary heart disease, occur in 1 in 5 people, have a strong genetic basis, and accentuate the cardiovascular risk from FH and other risk factors. This seminar will explore advances in FH and Lp(a) and the emerging clinical and public health approaches to reducing the burden of cardiovascular disease using genetics and family history.

Lipoprotein(a) and its Significance in Cardiovascular Disease: A Review.
Duarte Lau Freddy et al. JAMA cardiology 2022 5 (Posted: May 19, 2022 10AM)

Epidemiologic and genetic studies suggest a potentially causal association between elevated Lp(a) levels, atherosclerotic cardiovascular disease, and aortic valve stenosis. Emerging nucleic acid–based therapies have potent Lp(a)-lowering effects and appear safe; phase 3 trials will establish whether they improve cardiovascular outcomes.

The Potential Clinical Benefit of Lowering Lipoprotein(a)
BA Ference et al, JAMA Cardiology, April 3, 2022 (Posted: Apr 04, 2022 11AM)

Lipoprotein(a) (Lp[a]) is a cholesterol-carrying, apolipoprotein B (apo B)–containing lipoprotein that has an apolipoprotein(a) (apo[a]) moiety covalently attached to its apo B100 molecule.1 The attached apo(a) moiety interferes with the interaction between Lp(a) and the apo B100–dependent low-density lipoprotein receptor, resulting in a long circulating half-life and accumulation of oxidized phospholipids within Lp(a).

March 24 is Lipoprotein(a) Awareness Day
Family Heart Foundation, March 2022 (Posted: Mar 24, 2022 0PM)

The Family Heart Foundation established Lipoprotein(a) Awareness Day to raise awareness worldwide of elevated Lipoprotein(a), also known as Lp(a). On March 24, we will use the power of our voices so that everyone understands why they should #KnowLpa. Through national and local media, as well as social media engagement, we will draw attention to this important inherited disorder and encourage everyone to join the movement.

Newly Diagnosed: What to do when you’re newly diagnosed with Familial Hypercholesterolemia or High Lipoprotein(a)
Family Heart Foundation February, 2022 (Posted: Feb 20, 2022 7AM)

The diagnosis of familial hypercholesterolemia (FH) or high Lipoprotein (a), or Lp(a), can be very overwhelming. The first thing to do is take a deep breath… then maybe take another one. There are a lot of emotions and questions to sort through but know this – you are not alone. The Family Heart Foundation is here with the tools and resources you need to treat and manage your condition. The good news is that we are living in an extraordinary time of research and understanding of FH and high Lp(a). There are more treatments available now than ever before, and more are on the way. There is hope as we all strive for the same goal: More families. More hearts.

Genetic and functional evidence links a missense variant in B4GALT1 to lower LDL and fibrinogen.
Montasser May E et al. Science (New York, N.Y.) 2021 12 (6572) 1221-1227 (Posted: Dec 08, 2021 8AM)

A current goal in genomics is to identify genetic variation associated with actionable traits of clinical concern. Through exome sequencing of an Old Order Amish population, This study identified a genetic variant that results in an amino acid change in the beta-1,4-galactosyltransferase 1 protein and is correlated with lower levels of cardiovascular disease. Investigation of the mutant protein showed that it affects genes associated with low-density lipoprotein cholesterol (LDL-C), and mice engineered to express the mutant protein exhibited a 38% decrease in blood LDL-C levels. The study suggests that such genomic sequencing and analysis can link genotype to phenotype and identify potentially clinically actionable pathways to treat disease.

Trans-ethnic Mendelian-randomization study reveals causal relationships between cardiometabolic factors and chronic kidney disease.
Zheng Jie et al. International journal of epidemiology 2021 10 (Posted: Oct 24, 2021 6PM)

51, 672 CKD cases and 958 102 controls of European ancestry from CKDGen, UK Biobank and HUNT, and 13 093 CKD cases and 238 118 controls of East Asian ancestry from Biobank Japan, China Kadoorie Biobank and Japan-Kidney-Biobank/ToMMo were included. Eight risk factors showed reliable evidence of causal effects on CKD in Europeans, including genetically predicted body mass index (BMI), hypertension, systolic blood pressure, high-density lipoprotein cholesterol, apolipoprotein A-I, lipoprotein(a), type 2 diabetes (T2D) and nephrolithiasis. In East Asians, BMI, T2D and nephrolithiasis showed evidence of causality on CKD.

Long-term Benefits and Harms Associated With Genetic Cholesteryl Ester Transfer Protein Deficiency in the General Population.
Nordestgaard Liv Tybjærg et al. JAMA cardiology 2021 10 (Posted: Oct 08, 2021 5AM)

This cohort study of the Danish general population found that genetic CETP deficiency was associated with lower risk of cardiovascular morbidity and mortality but higher risk of age-related macular degeneration (AMD). The lower risk of cardiovascular end points was associated with genetically lower levels of non–high density lipoprotein (HDL) cholesterol, while the higher risk of AMD was associated with genetically higher levels of HDL cholesterol.

Lipoprotein(a) and Cardiovascular Diseases.
Miksenas Hannah et al. JAMA 2021 7 (Posted: Jul 11, 2021 2PM)

Recent studies have clarified the role of lipoprotein(a) [Lp(a)], relative to other lipoproteins, in atherogenesis. This JAMA Insights article discusses several clinical aspects of Lp(a), including the association with cardiovascular disease risk, considerations regarding measurement, guideline recommendations, and emerging therapies.

Cholesterol-lowering oligonucleotides pass preclinical milestone
K O'Leary, Nature Medicine, May 20, 2021 (Posted: May 21, 2021 0PM)

PCKS9 is a protein that regulates low-density lipoprotein (LDL) cholesterol in the liver and is a promising therapeutic target for the treatment of dyslipidemia and atherosclerosis. Monoclonal antibodies directed against PCSK9 are available for clinical use, but these must be administered by injection. To overcome this limitation, a recent study developed a potent antisense oligonucleotide–based PCSK9 inhibitor (known as AZD8233) suitable for oral delivery.

Effect of Pharmacogenetic Testing for Statin Myopathy Risk vs Usual Care on Blood Cholesterol A Randomized Clinical Trial
JL Vassy et al, JAMA Network Open, December 2, 2020 (Posted: Dec 04, 2020 11AM)

In this randomized clinical trial including 408 patients, statin-naive patients whose physicians knew their SLCO1B1 genotype results at baseline did not have poorer low-density lipoprotein cholesterol reductions after 1 year, compared with patients who received usual care.

2020 FH Global Summit
The FH Foundation, August 2020 (Posted: Aug 19, 2020 10AM)

The FH Global Summit is the only conference entirely devoted to the care and treatment of inherited cardiovascular disorders including familial hypercholesterolemia (FH) and high lipoprotein(a). Each year, this invitation only event brings together unique voices to inspire and advent change.

Polygenic Contribution to Low-density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia
M Trinder et al. Cir Genomics Precision Medicine, August 2020 (Posted: Aug 14, 2020 7AM)

We constructed a weighted LDL-C polygenic score, composed of 28 single-nucleotide variants, for individuals with monogenic FH from the British Columbia FH; Nutrition, Metabolism and Atherosclerosis Clinic; and UK Biobank cohorts. Polygenic contributions to LDL-C explain some of the heterogeneity in clinical presentation and ASCVD risk for individuals with FH.

Lipoprotein(a) and COVID-19
S Seim, Th FH FOundtaion, April 8, 2020 (Posted: Apr 12, 2020 8AM)

Antisense oligonucleotides for atherosclerotic disease
A Bajaj et al Nature Medicine, April 6, 2020 (Posted: Apr 07, 2020 10AM)

Novel RNA-targeting antisense therapy is shown to reduce lipoprotein(a) levels in 286 patients with existing atherosclerotic disease by upwards of 80% in a phase 2 clinical trial.

Practice of lipoprotein apheresis and short-term efficacy in children with homozygous familial hypercholesterolemia: Data from an international registry.
Luirink Ilse K et al. Atherosclerosis 2020 Feb 29924-31 (Posted: Mar 25, 2020 9AM)

Association of Long-term Exposure to Elevated Lipoprotein(a) Levels With Parental Life Span, Chronic Disease–Free Survival, and Mortality Risk- A Mendelian Randomization Analysis
B Arsenault et al, JAMA Network Open, February 27, 2020 (Posted: Mar 01, 2020 7AM)

In this genetic association study including 139?362 participants, 2-sample mendelian randomization showed that genetically elevated lipoprotein(a) levels were associated with parental life span. Measured lipoprotein(a) levels were also associated with all-cause mortality in a population-based study.

Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease
M Trinder et al, JAMA Cardiology, February 11, 2020 (Posted: Feb 13, 2020 8AM)

In this cohort study of 48?741 adults recruited by the UK Biobank, individuals with comparable levels of low-density lipoprotein cholesterol, monogenic hypercholesterolemia were found to have a greater risk of CVD compared to those with polygenic hypercholesterolemia.

Familial hypercholesterolemia and elevated lipoprotein(a): double heritable risk and new therapeutic opportunities.
Vuorio A et al. Journal of internal medicine 2020 Jan 287(1) 2-18 (Posted: Jan 02, 2020 9AM)

The cumulative burden of two genetically determined pro-atherogenic lipoproteins, LDL and Lp(a), is a potent driver of ASCVD in HeFH patients. Statins are the cornerstone of treatment of HeFH, but they do not lower the plasma concentrations of Lp(a). Emerging therapies effectively lower Lp(a) target the transcriptional product of the LPA gene.

Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults
E Bjornsson et al, JAMA Cardiology, November 20, 2019 (Posted: Nov 21, 2019 7AM)

Using mendelian randomization in a study of Icelandic adults, the results show that elevated non–high-density lipoprotein cholesterol is associated with the development of coronary atherosclerosis and may be a better marker for atherogenic lipoproteins than low-density lipoprotein cholesterol.

Longitudinal low density lipoprotein cholesterol goal achievement and cardiovascular outcomes among adult patients with familial hypercholesterolemia: The CASCADE FH registry.
Duell P Barton et al. Atherosclerosis 2019 Aug 85-93 (Posted: Sep 18, 2019 9AM)

Longitudinal data on familial hypercholesterolemia patients in The FH Foundation CASCADE registry shows that less than half achieve target LDL cholesterol & atherosclerotic events are high: Unmet public health challenge for early and more aggressive treatment.

Low-density lipoprotein cholesterol goal achievement in patients with familial hypercholesterolemia in countries outside Western Europe: The International ChoLesterol management Practice Study.
Blom Dirk J et al. Journal of clinical lipidology (4) 594-600 (Posted: Sep 13, 2019 9AM)

Data from an international practice survey of familial hypercholesterolemia: 1) low cholesterol goal attainment (32%); 2) statin doses were often inadequate, and 3) cholesterol absorption inhibitor use was low.

New European Lipid Guidelines Take Aggressive Approach
S Hughes, Medscape, September 1, 2019 (Posted: Sep 02, 2019 6AM)

New lipid guidelines from the European Society of Cardiology (ESC)/European Atherosclerosis Society (EAS) have adopted an aggressive approach with new lower targets for low-density lipoprotein (LDL) reduction than seen before for most risk categories.

Risk of Ischemic Stroke and Peripheral Arterial Disease in Heterozygous Familial Hypercholesterolemia: A Meta-Analysis.
Akioyamen Leo E et al. Angiology 2019 Sep 70(8) 726-736 (Posted: Aug 21, 2019 8AM)

Heterozygous familial hypercholesterolemia (HeFH) is a common genetic disorder predisposing affected individuals to lifelong low-density lipoprotein cholesterol (LDL-C) elevation and coronary heart disease. However, whether HeFH increases the risk of peripheral arterial disease (PAD) and ischemic stroke is undetermined.

Elevated Lipoprotein(a) and Risk of Ischemic Stroke
A Langsted et al, JACC, July 2019 (Posted: Jul 03, 2019 9AM)

Using Genetics to Plan Future Randomized Trials of Lipoprotein(a) Lowering-How Much Reduction, for How Long, and in Whom?
Thanassoulis George et al. JAMA cardiology 2019 Apr (Posted: May 20, 2019 9AM)

Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program
Y San et al. Circulation Genomics Prec Medicine, December 2018 (Posted: Jan 04, 2019 8AM)

In pediatric familial hypercholesterolemia, lipoprotein(a) is more predictive than LDL-C for early onset of cardiovascular disease in family members
AW Zawacki et al, J CLin Lipidology, August 2018 (Posted: Aug 28, 2018 10AM)

Precision Medicine and Personalized Management of Lipoprotein and Lipid Disorders in Chronic and End-Stage Kidney Disease.
Streja Elani et al. Seminars in nephrology 2018 Jul 38(4) 369-382 (Posted: Aug 08, 2018 9AM)

The Role of Lipoprotein(a) in Chronic Kidney Disease.
Hopewell Jemma C et al. Journal of lipid research 2018 Jan (Posted: Mar 02, 2018 11AM)

Proprotein Convertase Subtilisin-Kexin type-9 (PCSK9) and triglyceride-rich lipoprotein metabolism: Facts and gaps.
Baragetti Andrea et al. Pharmacological research 2018 Feb 1-11 (Posted: Feb 18, 2018 8AM)

Association of Genetic Variants Related to CETP Inhibitors and Statins With Lipoprotein Levels and Cardiovascular Risk
BA Ference, et al. JAMA, August 28, 2017 (Posted: Aug 28, 2017 1PM)

PCSK9 Inhibitors, Statins, Low-Density Lipoprotein Cholesterol, Mevalonate Pathway, and Toxicity-Reply.
Koren Michael J et al. JAMA cardiology 2017 Aug (Posted: Aug 18, 2017 8AM)

PCSK9 Inhibitors, Statins, Low-Density Lipoprotein Cholesterol, Mevalonate Pathway, and Toxicity.
Guijarro Carlos et al. JAMA cardiology 2017 Aug (Posted: Aug 18, 2017 8AM)

The Effect of Genetic Polymorphisms in SLCO2B1 on the Lipid-lowering Efficacy of Rosuvastatin in Healthy Adults with Elevated Low-density Lipoprotein.
Kim Tae-Eun et al. Basic & clinical pharmacology & toxicology 2017 Jun (Posted: Jun 21, 2017 8AM)

Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease
AV Khera et al, JAMA, March 7, 2017 (Posted: Mar 08, 2017 4PM)

Using Human Genetics to Predict the Effects and Side Effects of Lipoprotein(a) Lowering Drugs
AT Hansen, JACC, December 2016 (Posted: Jan 08, 2017 8AM)

Clinical familial hypercholesterolaemia: high lipoprotein(a) and LPA risk genotypes as possible risk factors
Lancet Diabetes & Endocrinology, July 25, 2016 (Posted: Jul 25, 2016 8PM)

Systematic Review of Low-Density Lipoprotein Cholesterol Apheresis for the Treatment of Familial Hypercholesterolemia.
Wang Anthony et al. Journal of the American Heart Association 2016 5(7) (Posted: Jul 14, 2016 7AM)

MicroRNAs and High-Density Lipoprotein Cholesterol Metabolism.
Ono Koh et al. International heart journal 2015 (4) 365-71 (Posted: Oct 26, 2015 4PM)

Elevated atherosclerosis-related gene expression, monocyte activation and microparticle-release are related to increased lipoprotein-associated oxidative stress in familial hypercholesterolemia.
Hjuler Nielsen Morten et al. PLoS ONE 2015 (4) e0121516 (Posted: Apr 29, 2015 7PM)

Normalization of low-density lipoprotein receptor expression in receptor defective homozygous familial hypercholesterolemia by inhibition of PCSK9 with alirocumab.
Lambert Gilles et al. J. Am. Coll. Cardiol. 2014 Dec 2. (21) 2299-300 (Posted: Feb 28, 2015 0PM)

Familial lipoprotein lipase deficiency
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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