Abstract:
AIMS:Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening condition characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and accelerated, premature atherosclerotic cardiovascular disease (ACVD). Given recent insights into the heterogeneity of genetic defects and clinical phenotype of HoFH, and the availability of new therapeutic options, this Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society (EAS) critically reviewed available data with the aim of providing clinical guidance for the recognition and management of HoFH. METHODS AND RESULTS:Early diagnosis of HoFH and prompt initiation of diet and lipid-lowering therapy are critical. Genetic testing may provide a definitive diagnosis, but if unavailable, markedly elevated LDL-C levels together with cutaneous or tendon xanthomas before 10 years, or untreated elevated LDL-C levels consistent with heterozygous FH in both parents, are suggestive of HoFH. We recommend that patients with suspected HoFH are promptly referred to specialist centres for a comprehensive ACVD evaluation and clinical management. Lifestyle intervention and maximal statin therapy are the mainstays of treatment, ideally started in the first year of life or at an initial diagnosis, often with ezetimibe and other lipid-modifying therapy. As patients rarely achieve LDL-C targets, adjunctive lipoprotein apheresis is recommended where available, preferably started by age 5 and no later than 8 years. The number of therapeutic approaches has increased following approval of lomitapide and mipomersen for HoFH. Given the severity of ACVD, we recommend regular follow-up, including Doppler echocardiographic evaluation of the heart and aorta annually, stress testing and, if available, computed tomography coronary angiography every 5 years, or less if deemed necessary. CONCLUSION:This EAS Consensus Panel highlights the need for early identification of HoFH patients, prompt referral to specialized centres, and early initiation of appropriate treatment. These recommendations offer guidance for a wide spectrum of clinicians who are often the first to identify patients with suspected HoFH.
journal_name
Eur Heart Jjournal_title
European heart journalauthors
Cuchel M,Bruckert E,Ginsberg HN,Raal FJ,Santos RD,Hegele RA,Kuivenhoven JA,Nordestgaard BG,Descamps OS,Steinhagen-Thiessen E,Tybjærg-Hansen A,Watts GF,Averna M,Boileau C,Borén J,Catapano AL,Defesche JC,Hovingh GK,Humpdoi
10.1093/eurheartj/ehu274subject
Has Abstractpub_date
2014-08-21 00:00:00pages
2146-57issue
32eissn
0195-668Xissn
1522-9645pii
ehu274journal_volume
35pub_type
共识发展会议,杂志文章abstract:AIMS:A small reference diameter may be the consequence of high plaque burden and diffuse disease. The reference vessel diameter in small coronary arteries may vary according to the method of measurement used. We endeavoured to confirm the difference between data from examinations conducted using angiography with that r...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1053/euhj.2001.2730
更新日期:2002-02-01 00:00:00
abstract::To evaluate the efficacy and safety of hirudin, a direct thrombin inhibitor, in patients with acute myocardial infarction, a dose-finding, angiography study was carried out. After a pilot phase in 10 patients treated with a bolus of 0.1 mg.kg-1 and a continuous infusion of 0.06 mg.kg-1.h-1 (dose group I), two doses of...
journal_title:European heart journal
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1093/eurheartj/16.suppl_d.33
更新日期:1995-07-01 00:00:00
abstract:AIMS:Aortic stenosis causes cardiac hypertrophy and fibrosis, which often persists despite pressure unloading after aortic valve replacement. The persistence of myocardial fibrosis in particular leads to impaired cardiac function and increased mortality. We investigated whether granulocyte colony-stimulating factor (G-...
journal_title:European heart journal
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doi:10.1093/eurheartj/ehr434
更新日期:2012-03-01 00:00:00
abstract:AIMS:Circulating progenitor cells (PC) may contribute to myocardial recovery following infarction. Growth factors including VEGF are produced during ischaemia and stimulate PC release and activation. In this study, we focused on the functional chemotactic response of PC to VEGF in subjects early after myocardial ischae...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehm542
更新日期:2008-01-01 00:00:00
abstract:AIMS:To evaluate outcomes for left main coronary artery (LMCA) stenting and compare results between protected (left coronary grafted) and unprotected LMCA stenting in the current bare-metal stent era. METHODS:We reviewed outcomes among 142 consecutive patients who underwent protected or unprotected LMCA stenting since...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1016/s0195-668x(03)00314-2
更新日期:2003-09-01 00:00:00
abstract::The role of ventricular rate-adaptive pacing (VVIR) in the elderly was investigated in 12 patients with a mean age of 85 +/- 2 years (range 75-95 years) with implanted activity-initiated VVIR pacemakers. Although four patients had significant extracardiac diseases, all were capable of independent walking and self care...
journal_title:European heart journal
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1093/oxfordjournals.eurheartj.a060291
更新日期:1992-07-01 00:00:00
abstract::In the near future, the practice of cardiology in Europe will be strongly influenced by a complex interplay of epidemiological, social, economical, professional, and technological evolving factors. The present report summarizes the conclusions of an expert conference organized by the European Society of Cardiology to ...
journal_title:European heart journal
pub_type: 共识发展会议,杂志文章
doi:10.1093/eurheartj/ehl491
更新日期:2007-03-01 00:00:00
abstract:AIMS:No-reflow after a primary percutaneous coronary intervention (PCI) is associated with a high incidence of left ventricular (LV) failure and a poor prognosis. Endothelin-1 (ET-1) is a potent endothelium-derived vasoconstrictor peptide and an important modulator of neutrophil function. Elevated systemic ET-1 levels ...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehl119
更新日期:2006-08-01 00:00:00
abstract:AIMS:Little research exists on exercise performance and training in patients with an implemented cardioverter defibrillator (ICD) and only in a limited number of patients. This study aims to investigate the effect of exercise training in ICD patients in comparison to the effects in other cardiac patients without an ICD...
journal_title:European heart journal
pub_type: 杂志文章,多中心研究
doi:10.1016/j.ehj.2004.04.034
更新日期:2004-07-01 00:00:00
abstract:AIMS:Aspirin combined with clopidogrel is the treatment of choice for acute coronary syndromes. Although the maintenance of aspirin until surgery does not affect postoperative bleeding after coronary artery bypass graft (CABG) surgery, the latter may be dramatically increased when clopidogrel is continued over a period...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehm049
更新日期:2007-04-01 00:00:00
abstract::A total of 546 patients with severe aortic stenosis (AS) were retrospectively reviewed to assess the efficacy of percutaneous transluminal valvuloplasty (PTV) and valve replacement (VR). Of these, 490 underwent VR between 1968 and 1986 (mean age 62 +/- 12 years, 71.7% were in NYHA class III or IV), 68.8% received mech...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/9.suppl_e.163
更新日期:1988-04-01 00:00:00
abstract:AIMS:Oral glucose-lowering medications are associated with excess risk of heart failure (HF). Given the absence of comparative data among drug classes, we performed a retrospective study in 32 Health Services of 16 Italian regions accounting for a population of 18 million individuals, to assess the association between ...
journal_title:European heart journal
pub_type: 杂志文章,多中心研究
doi:10.1093/eurheartj/ehv301
更新日期:2015-09-21 00:00:00
abstract::Transesophageal echocardiographic evaluation of right and left pulmonary arteries, up to the origin of their lobar branches, was prospectively performed with a single plane probe in 32 consecutive patients (18 M, 14 F, aged 55.5 +/- 14.6, from 32 to 80 years) with clinical or echocardiographic suspicion of pulmonary e...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a060947
更新日期:1995-04-01 00:00:00
abstract:AIMS:Habitual cigarette smokers, paradoxically, present improved short-term prognosis after acute myocardial infarction, a phenomenon often termed "smoker's paradox". We sought to examine cigarette smokers' post-infarction survival advantage in a countrywide survey of unselected, consecutive patients presenting with ac...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1053/euhj.2000.2315
更新日期:2001-05-01 00:00:00
abstract:AIMS:We used the hospital discharge records of Piedmont region (northern Italy) to evaluate whether a national law banning smoking in public resulted in a short-term reduction in hospital admissions for acute myocardial infarction (AMI). METHODS AND RESULTS:Rates of admission for AMI before the ban (October-December 2...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehl201
更新日期:2006-10-01 00:00:00
abstract:Aims:The differential impact on ischaemic and bleeding events of the type of drug-eluting stent [durable polymer stents [DES] vs. biodegradable polymer stents vs. bioresorbable scaffolds (BRS)] and length of dual antiplatelet therapy (DAPT) remains to be defined. Methods and results:Randomized controlled trials compar...
journal_title:European heart journal
pub_type: 杂志文章,meta分析,评审
doi:10.1093/eurheartj/ehx437
更新日期:2017-11-07 00:00:00
abstract:AIMS:To assess the safety and effects of combined treatment with vascular endothelial growth factor-A(165) plasmid (VEGF-A(165)) and granulocyte- colony stimulating factor (G-CSF) mobilization of bone marrow stem cells in patients with severe chronic ischaemic heart disease (IHD). METHODS AND RESULTS:Sixteen patients ...
journal_title:European heart journal
pub_type: 杂志文章,随机对照试验
doi:10.1093/eurheartj/ehl117
更新日期:2006-08-01 00:00:00
abstract:AIMS:Serum gamma-glutamyltransferase (GGT) concentration may be involved in atherosclerosis. This study examined if serum GGT predicted coronary heart disease (CHD), especially differentiating non-fatal myocardial infarction (MI) and fatal CHD event, among the general population or participants with type-2 diabetes. M...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehl086
更新日期:2006-09-01 00:00:00
abstract:Aims:Primary prevention implantable cardioverter defibrillators (ICDs) are established therapy for reducing mortality in patients with left ventricular systolic dysfunction and ischaemic heart disease (IHD). However, their efficacy in patients without IHD has been controversial. We undertook a meta-analysis of the tota...
journal_title:European heart journal
pub_type: 杂志文章,meta分析,评审
doi:10.1093/eurheartj/ehx028
更新日期:2017-06-07 00:00:00
abstract::On the occasion of a routine medical check-up 256 out of 1100 individuals with an accumulation of coronary risk factors were screened for silent myocardial ischaemia by exercise testing and Holter monitoring. Of these individuals 5.5% had a pathological exercise test, 7.4% had ischaemia-like events on the Holter ECG, ...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/9.suppl_n.65
更新日期:1988-12-01 00:00:00
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journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehq072
更新日期:2010-08-01 00:00:00
abstract::To study the effect of heart rate changes on Doppler measurements of mitral valve area atrial pacing was performed in 14 patients with mitral stenosis and sinus rhythm. Continuous wave Doppler and haemodynamic measurements were performed simultaneously at rest and during pacing-induced tachycardia. (1) Mitral valve ar...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a060139
更新日期:1992-02-01 00:00:00
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journal_title:European heart journal
pub_type: 杂志文章
doi:10.1053/euhj.1999.1867
更新日期:2000-05-01 00:00:00
abstract::The feasibility of transcatheter laser coagulation of atrial myocardium was tested in a canine model by using a combined electrode-laser catheter. In 17 anaesthetized beagles a total of 264 lesions, 12-19 per dog, and 3-5 in each area were produced in: (1) the lateral walls, (2) the posterior right atrial walls, (3) t...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a060618
更新日期:1994-07-01 00:00:00
abstract::Cardiac hypertrophy was induced in rats either by isoprenaline treatment or by experimental abdominal aortic stenosis. In both models, the UTP content increased in the hypertrophying heart, while the ATP level remained depressed. The rate of net synthesis of uracil nucleotides, estimated by phosphate incorporation int...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/5.suppl_f.155
更新日期:1984-12-01 00:00:00
abstract::Food constituents can either promote cardiovascular health or serve in its demise. In view of the lack of more effective pharmacological interventions in cardiovascular disease (CVDs), attention has focused on the potential protective effects of diet. Food components and their metabolites are emerging as major regulat...
journal_title:European heart journal
pub_type: 杂志文章,评审
doi:10.1093/eurheartj/ehy597
更新日期:2019-02-14 00:00:00
abstract:BACKGROUND:Polymorphisms within renin angiotensin system genes have been investigated as risk factors for coronary artery disease in different populations with contradicting results. The aim of this study was to investigate the genotype distribution and the allele frequencies of ACE, AT1R and AGT gene polymorphisms as ...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1053/euhj.1999.1738
更新日期:2000-04-01 00:00:00
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journal_title:European heart journal
pub_type: 杂志文章,随机对照试验
doi:10.1093/eurheartj/ehm647
更新日期:2008-02-01 00:00:00
abstract:AIMS:The 2019 report from the European Society of Cardiology (ESC) Atlas provides a contemporary analysis of cardiovascular disease (CVD) statistics across 56 member countries, with particular emphasis on international inequalities in disease burden and healthcare delivery together with estimates of progress towards me...
journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/eurheartj/ehz859
更新日期:2020-01-01 00:00:00
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journal_title:European heart journal
pub_type: 杂志文章
doi:10.1093/oxfordjournals.eurheartj.a061894
更新日期:1985-06-01 00:00:00