The Present and the Future of Genetic Testing in Familial Hypercholesterolemia: Opportunities and Caveats.

Abstract:

PURPOSE OF REVIEW:We summarize recent advances in the understanding of genetic testing in familial hypercholesterolemia (FH), the use of expanded FH next-generation sequencing panels, and directions for future research. RECENT FINDINGS:The uptake of massively parallel sequencing in research and diagnostic laboratories has enabled expanded testing for FH and its phenocopies, with the added advantage that copy number variants can be detected. However, increasing the number of genes tested increases the number of variants detected, which may or may not be pathogenic. Guidelines for assessing variant pathogenicity will assist the provision of accurate and consistent interpretations between centers. Expanded FH panels can identify mutations in other relevant genes, such as APOE, LIPA, and ABCG5/8 and enable the identification of polygenic hypercholesterolemia using LDL genetic risk scores. Increased awareness and understanding of genomics by the public, patients, and health professionals is critical for effectively translating into practice new advances in genetic testing for FH.

journal_name

Curr Atheroscler Rep

authors

Hooper AJ,Burnett JR,Bell DA,Watts GF

doi

10.1007/s11883-018-0731-0

subject

Has Abstract

pub_date

2018-05-19 00:00:00

pages

31

issue

6

eissn

1523-3804

issn

1534-6242

pii

10.1007/s11883-018-0731-0

journal_volume

20

pub_type

杂志文章,评审
  • Degenerative Severe Aortic Stenosis and Concomitant Coronary Artery Disease: What Is Changing in the Era of the "Transcatheter Revolution"?

    abstract:PURPOSE OF REVIEW:To summarize epidemiology, pathophysiology, prognostic relevance, and treatment options of coronary artery disease (CAD) when coupled with severe aortic stenosis (SAS). In regard to treatment options, we focused on the most recently adopted therapeutic approaches and on the future perspectives in ligh...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-020-0835-1

    authors: Pepe M,Larosa C,Rosa I,Biondi-Zoccai G,Nestola PL,Di Cillo O,Bortone AS,Giordano A,Favale S

    更新日期:2020-05-26 00:00:00

  • Early Cardioversion in Atrial Fibrillation: Earlier Is Better, but Not Always and (Maybe) Not Immediately.

    abstract::Atrial fibrillation (AF) is the most common cardiac arrhythmia in humans. One of its important features is the tendency to become more persistent over time, even in the absence of underlying progressive heart disease. Conversion and maintenance of sinus rhythm by pharmacological or electrical methods become increasing...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-017-0638-1

    authors: Piña PG,Chicos AB

    更新日期:2017-01-01 00:00:00

  • Heterogeneity of Coronary Plaque Morphology and Natural History: Current Understanding and Clinical Significance.

    abstract:PURPOSE OF REVIEW:Despite the important progress in identifying high-risk atherosclerotic plaques, many key elements are elusive. Advanced imaging modalities provide valuable information about the anatomic and functional plaque characteristics and underscore the presence of multiple plaque morphologies. However, how th...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-016-0626-x

    authors: Zaromytidou M,Antoniadis AP,Siasos G,Coskun AU,Andreou I,Papafaklis MI,Lucier M,Feldman CL,Stone PH

    更新日期:2016-12-01 00:00:00

  • Functional foods and cardiovascular disease.

    abstract::Functional foods are foods that, by virtue of physiologically active food components, provide health benefits beyond basic nutrition. Many functional foods have been found to be potentially beneficial in the prevention and treatment of cardiovascular disease, the leading cause of mortality in the United States. These ...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-000-0045-9

    authors: Hasler CM,Kundrat S,Wool D

    更新日期:2000-11-01 00:00:00

  • Pharmacology of antiplatelet agents.

    abstract::Pharmacotherapies with agents that inhibit platelet function have proven to be effective in the treatment of acute coronary syndromes, and in the prevention of complications during and after percutaneous coronary intervention. Because of multiple synergetic pathways of platelet activation and their close interplay wit...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-013-0371-3

    authors: Kalra K,Franzese CJ,Gesheff MG,Lev EI,Pandya S,Bliden KP,Tantry US,Gurbel PA

    更新日期:2013-12-01 00:00:00

  • Novel Anti-glycemic Drugs and Reduction of Cardiovascular Risk in Diabetes: Expectations Realized, Promises Unmet.

    abstract:PURPOSE OF REVIEW:The purpose is to review evidence on cardiovascular risks and benefits of new treatments for type 2 diabetes mellitus. RECENT FINDINGS:In response to guidance issued by the Food and Drug Administration, thousands of patients have been enrolled in large randomized trials evaluating the cardiovascular ...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-016-0633-y

    authors: Flory JH,Ukena JK,Floyd JS

    更新日期:2016-12-01 00:00:00

  • Intracranial atherosclerotic stroke: specific focus on the metabolic syndrome and inflammation.

    abstract::Stroke is the second leading cause of mortality world-wide and is well suited for prevention because it has a high prevalence, high burden of economic cost, well-defined modifiable risk factors, and effective prevention measures. Atherosclerosis is one of the major mechanisms of ischemic stroke, but the apparent diffe...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-006-0012-1

    authors: Bang OY

    更新日期:2006-07-01 00:00:00

  • Vitamin D, Calcium, and Cardiovascular Disease: A"D"vantageous or "D"etrimental? An Era of Uncertainty.

    abstract::While the function of vitamin D in regulating calcium homeostasis is well established, there has been growing interest in its role in the prevention of numerous chronic diseases, including cardiovascular disease (CVD). There is mounting epidemiological evidence suggesting that vitamin D deficiency is linked to increas...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-017-0637-2

    authors: Chin K,Appel LJ,Michos ED

    更新日期:2017-01-01 00:00:00

  • The plaque "micro" environment: microRNAs control the risk and the development of atherosclerosis.

    abstract::While the discovery of microRNAs has exponentially expanded our understanding of the regulatory mechanisms governing gene networks in many biological processes, the study of these tiny RNA powerhouses in cardiovascular disease is in its infancy. To date, there have been over 1200 human microRNAs identified, and they a...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-012-0272-x

    authors: Rayner KJ,Moore KJ

    更新日期:2012-10-01 00:00:00

  • Stenting in Intracranial Stenosis: Current Controversies and Future Directions.

    abstract::Angioplasty and stenting for intracranial atherosclerotic stenosis (ICAS) are a last resort for patients with high-grade intracranial stenosis with multiple ischemic events unresponsive to medical therapy. Medical management, consisting of aggressive risk factor control and dual antiplatelet therapy, is superior to an...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-015-0527-4

    authors: Chatterjee AR,Derdeyn CP

    更新日期:2015-08-01 00:00:00

  • Oxidative stress and atherosclerosis.

    abstract::Understanding of the pathophysiology of atherosclerosis can provide new strategies for the prevention and treatment of patients with this common disease. Clinical, epidemiologic, and basic molecular science studies have identified oxidative stress as a factor contributing to the development and progression of atherosc...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-005-0013-5

    authors: Schulze PC,Lee RT

    更新日期:2005-05-01 00:00:00

  • Lipid management: considerations in acute coronary syndrome.

    abstract::Managing dyslipidemia is an important part of the primary and secondary prevention of coronary heart disease. Low-density lipoprotein cholesterol reduction remains the primary lipid goal. Patients who have experienced an acute coronary syndrome (ACS) are at very high risk of recurrent adverse cardiovascular events. A ...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章

    doi:10.1007/s11883-009-0024-8

    authors: Polsani VR,Virani SS,Nambi V

    更新日期:2009-03-01 00:00:00

  • The Mediterranean diet: rationale and evidence for its benefit.

    abstract::There is now a consensus about recommending the Mediterranean diet pattern for the prevention of coronary heart disease (CHD) and cancer. The most important aspect of this treatment decision, in contrast with the pharmacologic prevention of CHD (including cholesterol lowering), is that the Mediterranean diet has a str...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-008-0080-5

    authors: de Lorgeril M,Salen P

    更新日期:2008-12-01 00:00:00

  • Monounsaturated fatty acids and atherosclerosis: opposing views from epidemiology and experimental animal models.

    abstract::A substantial body of epidemiologic data has shed light on the potential protective effects of the Mediterranean diet against atherosclerosis in humans. Many believe the reason the Mediterranean diet is atheroprotective is the elevated consumption of olive oil, an oil poor in saturated fatty acids (SFA) and highly enr...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章

    doi:10.1007/s11883-007-0066-8

    authors: Brown JM,Shelness GS,Rudel LL

    更新日期:2007-12-01 00:00:00

  • A Clinical Guide to Combination Lipid-Lowering Therapy.

    abstract:PURPOSE OF REVIEW:We provide an overview of our current understanding of combination lipid-lowering therapies intended for dyslipidemia treatment and cardiovascular disease prevention. First, we analyze recent statin and non-statin combination therapy guidelines and clinical studies since the publication of 2013 Americ...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-018-0721-2

    authors: Russell C,Sheth S,Jacoby D

    更新日期:2018-03-07 00:00:00

  • Blood lipids and stroke: what more can we do besides reducing low-density lipoprotein cholesterol?

    abstract::Statin therapy has became the most important advance in stroke prevention since the introduction of aspirin and blood pressure-lowering therapies. Other lipid-modifying drugs have been less successful in reducing the incidence of stroke, but because of evidence for the use of triglyceride-lowering drugs and treatments...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-011-0186-z

    authors: Deplanque D,Amarenco P

    更新日期:2011-08-01 00:00:00

  • Coronary heart disease in young adults.

    abstract::Despite the recent decline in mortality from coronary heart disease (CHD), this disease remains the leading killer of US adults of all ages. CHD in young adults is not as well characterized as CHD in older individuals because it occurs less frequently, but this disease can have devastating consequences for young patie...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-012-0226-3

    authors: Rubin JB,Borden WB

    更新日期:2012-04-01 00:00:00

  • The high-risk plaque initiative: primary prevention of atherothrombotic events in the asymptomatic population.

    abstract::The High-Risk Plaque (HRP) Initiative is a research and development effort to advance the understanding, recognition, and management of asymptomatic individuals at risk for a near-term atherothrombotic event such as myocardial infarction or stroke. Clinical studies using the newest technologies have been initiated, in...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,随机对照试验

    doi:10.1007/s11883-011-0193-0

    authors: Falk E,Sillesen H,Muntendam P,Fuster V

    更新日期:2011-10-01 00:00:00

  • Biologic therapies for dyslipidemia.

    abstract::Biologic therapies involve the utilization of proteins, DNA, antibodies, or other substances derived or synthesized from living tissue for therapeutic effects. There are several biologic therapies in clinical development for the prevention and treatment of atherosclerosis. The most advanced in human trials are apolipo...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-004-0118-2

    authors: Davidson MH

    更新日期:2004-01-01 00:00:00

  • Cholesterol, stroke risk, and stroke prevention.

    abstract::Serum cholesterol traditionally has been considered a poor predictor of total stroke risk; however, it is associated positively with ischemic stroke risk and associated negatively with hemorrhagic stroke risk. Although studies failed to demonstrate stroke reduction using older cholesterol-lowering medications, recent ...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-000-0101-5

    authors: Ansell BJ

    更新日期:2000-03-01 00:00:00

  • Remnant lipoproteins and atherosclerosis.

    abstract::A recently developed assay for quantification of remnant-like particle cholesterol has provided considerable evidence that reinforces the concept that elevated levels of plasma remnants are associated with increased cardiovascular disease in different populations and distinct patient groups. In this review, we provide...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-005-0037-x

    authors: Twickler T,Dallinga-Thie GM,Chapman MJ,Cohn JS

    更新日期:2005-03-01 00:00:00

  • Radiation-Induced Cardiovascular Disease.

    abstract:PURPOSE OF REVIEW:Thoracic radiation therapy is an effective treatment for several malignancies, such as Hodgkin's lymphoma and breast cancer. Over the years, however, the incidence of cardiovascular events has increased in these patients, notably in younger survivors who do not have traditional risk factors. This revi...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-017-0658-x

    authors: Raghunathan D,Khilji MI,Hassan SA,Yusuf SW

    更新日期:2017-05-01 00:00:00

  • The effect of gastrointestinal surgery on insulin resistance and insulin secretion.

    abstract::Diabesity is a term often used to indicate the association of type-2 diabetes mellitus (T2DM) with obesity; the prevalence of both conditions is rapidly increasing worldwide and has reached epidemic proportions. Insulin resistance represents the major determinant of T2DM, which becomes manifest once relative β-cell fa...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-012-0284-6

    authors: Castagneto M,Mingrone G

    更新日期:2012-12-01 00:00:00

  • The Role of the Gut Microbiota in Coronary Heart Disease.

    abstract:PURPOSE OF REVIEW:This review focuses on recent evidence examining the role gut microbiota play in coronary heart disease. It also provides a succinct overview of current and future therapies targeting the gut microbiota for coronary heart disease risk reduction. RECENT FINDINGS:A consensus has been reached that diffe...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-020-00892-2

    authors: Liu H,Zhuang J,Tang P,Li J,Xiong X,Deng H

    更新日期:2020-10-16 00:00:00

  • Stroke and cognition.

    abstract::Several studies confirm cognitive impairment and dementia to be increased after stroke in the elderly. Although not necessarily involving memory deficits, the frequency of cognitive impairments may occur in up to 30% of stroke survivors at 3 months. This impairment may be confounded by preexisting cognitive decline or...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-001-0028-5

    authors: Kalaria RN,Ballard C

    更新日期:2001-07-01 00:00:00

  • Vascular pleiotropy of statins: clinical evidence and biochemical mechanisms.

    abstract::The ability of statins to lower serum cholesterol and reduce coronary heart disease endpoints has confirmed portions of the lipid hypothesis. However, the time to benefit and increased benefit in overlapping populations have suggested that nonlipid or pleiotropic effects of statins may be present. The apparent benefit...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-003-0066-2

    authors: Callahan AS 3rd

    更新日期:2003-01-01 00:00:00

  • Low-density lipoprotein reduction in high-risk patients: how low do you go?

    abstract::Cardiovascular disease and its clinical sequelae remain the leading causes of morbidity and mortality in many regions of the world. Dyslipidemia is a critical risk factor to intercept in both the primary and secondary prevention of acute cardiovascular events. The prospective, placebo-controlled clinical trials conduc...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-004-0045-2

    authors: Toth PP

    更新日期:2004-09-01 00:00:00

  • Genetics of Arterial-Wall-Specific Mechanisms in Atherosclerosis: Focus on Mitochondrial Mutations.

    abstract:PURPOSE OF REVIEW:Mutations in both nuclear and mitochondrial genes are associated with the development of atherosclerotic lesions in arteries and may provide a partial explanation to the focal nature of lesion distribution in the arterial wall. This review is aimed to discuss the genetic aspects of atherogenesis with ...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-020-00873-5

    authors: Orekhov AN,Ivanova EA,Markin AM,Nikiforov NG,Sobenin IA

    更新日期:2020-08-09 00:00:00

  • The Role of Nutraceuticals in the Optimization of Lipid-Lowering Therapy in High-Risk Patients with Dyslipidaemia.

    abstract:PURPOSE OF REVIEW:We aimed to summarize recent guidelines, position papers, and high-quality clinical research relating the use of nutraceuticals in the management of individuals at high risk of atherosclerotic cardiovascular disease. RECENT FINDINGS:It is essential that individuals at high risk of cardiovascular dise...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-020-00887-z

    authors: Penson PE,Banach M

    更新日期:2020-09-18 00:00:00

  • Current Role of Lipoprotein Apheresis.

    abstract:PURPOSE OF REVIEW:Lipoprotein apheresis is a very efficient but time-consuming and expensive method of lowering levels of low-density lipoprotein cholesterol, lipoprotein(a)) and other apoB containing lipoproteins, including triglyceride-rich lipoproteins. First introduced almost 45 years ago, it has long been a therap...

    journal_title:Current atherosclerosis reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11883-019-0787-5

    authors: Thompson G,Parhofer KG

    更新日期:2019-05-01 00:00:00