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Heterozygous familial hypercholesterolemia

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https://www.readbyqxmd.com/read/28225288/screenpro-fh-screening-project-for-familial-hypercholesterolemia-in-central-southern-and-eastern-europe-basic-epidemiology
#1
Richard Češka, Tomáš Freiberger, Andrey V Susekov, György Paragh, Željko Reiner, Lale Tokgözoğlu, Katarína Rašlová, Maciej Banach, Branislav Vohnout, Andrzej Rynkiewicz, Assen Goudev, Gheorghe-Andrei Dan, Dan Gaiţă, Belma Pojskić, Ivan Pećin, Meral Kayıkçıoğlu, Olena Mitchenko, Marat V Ezhov, Gustavs Latkovskis, Žaneta Petrulionienė, Zlatko Fras, Nebojsa Tasić, Erkin M Mirrakhimov, Tolkun Murataliev, Alexander B Shek, Vladimír Tuka, Alexandros D Tselepis, Elie M Moubarak, Khalid Al Rasadi
INTRODUCTION: Despite great recent progress, familial hypercholesterolemia (FH) is still underestimated, under-diagnosed and thus undertreated worldwide. We have very little information on exact prevalence of patients with FH in the Central, Eastern and Southern Europe (CESE) region. The aim of the study was to describe the epidemiological situation in the CESE region from data available. METHODS: All local leaders of the ScreenPro FH project were asked to provide local data on (a) expert guess of FH prevalence (b) the medical facilities focused on FH already in place (c) the diagnostic criteria used (d) the number of patients already evidenced in local database and (e) the availability of therapeutic options (especially plasma apheresis)...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/28179607/half-a-century-tales-of-familial-hypercholesterolemia-fh-in-japan
#2
Hiroshi Mabuchi
Familial hypercholesterolemia (FH) is a disease characterized by a triad: elevated low-density lipoprotein (LDL) cholesterol, tendon xanthomas, and premature coronary heart disease. Thus, it can be considered as a model disease for hypercholesterolemia and atherosclerotic cardiovascular disease (ASCVD). For the diagnosis of hetero-FH, the detection of Achilles tendon xanthomas by palpation or on X-ray is an indispensable diagnostic skill in clinical lipidology. To prevent the under-diagnosis and under-treatment of FH, the diagnostic criteria should be more convenient and user-friendly...
February 8, 2017: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/28169949/molecular-basis-of-familial-hypercholesterolemia
#3
Caroline S Bruikman, Gerard K Hovingh, John J P Kastelein
PURPOSE OF REVIEW: To provide an overview about the molecular basis of familial hypercholesterolemia. RECENT FINDINGS: Familial hypercholesterolemia is a common hereditary cause of premature coronary heart disease. It has been estimated that 1 in every 250 individuals has heterozygous familial hypercholesterolemia and that fewer than 1% of patients with familial hypercholesterolemia have been identified across the globe. If heterozygous familial hypercholesterolemia is left untreated, it is likely that coronary heart disease will manifest clinically prior to the age of 55 years and that half of all patients will prematurely die from the consequences of myocardial infarction...
February 4, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28155622/the-role-of-proprotein-convertase-subtilisin-kexin-type-9-inhibitors-in-the-management-of-dyslipidemia
#4
Konstantinos Tziomalos
BACKGROUND: Treatment with statins substantially reduces cardiovascular morbidity and mortality both in patients with and without established cardiovascular disease. Accordingly, statins represent the cornerstone of lipid-lowering treatment. However, there are still unmet clinical needs in the management of dyslipidemia. Indeed, it is difficult to achieve low-density lipoprotein cholesterol (LDL-C) targets in many patients, particularly in those at very high cardiovascular risk or in those with very high baseline LDL-C levels [e...
February 1, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28123161/estimated-prevalence-of-heterozygous-familial-hypercholesterolemia-in-patients-with-acute-coronary-syndrome
#5
Hirotoshi Ohmura, Yoshifumi Fukushima, Atsushi Mizuno, Koichiro Niwa, Yohei Kobayashi, Toshiaki Ebina, Kazuo Kimura, Shun Ishibashi, Hiroyuki Daida
Heterozygous familial hypercholesterolemia (FH) represents a strong risk for development of premature coronary artery disease (CAD). However, the majority of patients with FH are undiagnosed and the prevalence likely represents an underestimate in most countries. In Japan, the possible contribution of FH to the development of CAD may be higher because of the low incidence of CAD among the general population. We estimated the prevalence of heterozygous FH by measuring Achilles tendon thickness (ATT) in patients with acute coronary syndrome (ACS)...
February 7, 2017: International Heart Journal
https://www.readbyqxmd.com/read/28116871/update-on-familial-hypercholesterolemia-diagnosis-cardiovascular-risk-and-novel-therapeutics
#6
REVIEW
Sang Hak Lee
In recent studies, the reported prevalence of heterozygous familial hypercholesterolemia (FH) has been higher than in previous reports. Although cascade genetic screening is a good option for efficient identification of affected patients, diagnosis using only clinical criteria is more common in real clinical practice. Cardiovascular risk is much higher in FH patients due to longstanding low density lipoprotein cholesterol (LDL-C) burden and is also influenced by other risk factors. Although guidelines emphasize aggressive LDL-C reduction, the majority of patients cannot reach the LDL-C goal by conventional pharmacotherapy...
January 19, 2017: Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28115017/efficacy-safety-low-density-lipoprotein-cholesterol-lowering-and-calculated-10-year-cardiovascular-risk-reduction-of-alirocumab-and-evolocumab-in-addition-to-maximal-tolerated-cholesterol-lowering-therapy-a-post-commercialization-study
#7
Parth Shah, Charles J Glueck, Naila Goldenberg, Sarah Min, Chris Mahida, Ilana Schlam, Matan Rothschild, Ali Huda, Ping Wang
BACKGROUND: Efficacy and safety of proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibitors, alirocumab (ALI) and evolocumab (EVO) have previously been evaluated through controlled clinical trials with selective patient groups. Post-commercially, in patients with heterozygous familial hypercholesterolemia (HeFH) and/or cardiovascular disease (CVD) with suboptimal LDL cholesterol (LDLC) lowering on maximal tolerated cholesterol lowering therapy, we assessed efficacy and safety of ALI and EVO...
January 23, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28111413/acute-coronary-syndrome-with-or-without-heterozygous-familial-hypercholesterolemia
#8
Shin-Ichiro Miura
No abstract text is available yet for this article.
February 7, 2017: International Heart Journal
https://www.readbyqxmd.com/read/28104544/molecular-genetics-of-familial-hypercholesterolemia-in-israel-revisited
#9
Ronen Durst, Uche Ken Ibe, Shoshi Shpitzen, Daniel Schurr, Osnat Eliav, Marta Futema, Ros Whittall, Auryan Szalat, Vardiella Meiner, Hilla Knobler, Dov Gavish, Yaakov Henkin, Avishay Ellis, Ardon Rubinstein, Dror Harats, Rafael Bitzur, Bruno Hershkovitz, Steve E Humphries, Eran Leitersdorf
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the genes for LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type9 (PCSK9). The purpose of the current investigation was to define the current spectrum of mutations causing FH in Israel. METHODS: New families were collected through the MEDPED (Make Early Diagnosis Prevent Early Death) FH program. Molecular analysis of the LDLR, PCSK9 and APOB genes was done using High Resolution Melt and direct sequencing in 67 index cases...
December 18, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/28059950/phenotype-vs-genotype-in-severe-familial-hypercholesterolemia-what-matters-most-for-the-clinician
#10
Raul D Santos
PURPOSE OF THE REVIEW: Familial hypercholesterolemia is associated with a high lifetime risk of atherosclerotic cardiovascular disease (ASCVD). However, this risk is variable. This review evaluates recent evidence related to ASCVD risk stratification in familial hypercholesterolemia considering aspects of phenotype and genotype. RECENT FINDINGS: The heterogeneity in clinical, laboratory characteristics, and in ASCVD risk in both homozygous and heterozygous familial hypercholesterolemia individuals in part can be attributed to the type of molecular defect...
January 5, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28052405/myocardial-layer-specific-analysis-in-patients-with-heterozygous-familial-hypercholesterolemia-using-speckle-tracking-echocardiography
#11
Zhaoting Leng, Rongjuan Li, Yijia Li, Lvya Wang, Yueli Wang, Ya Yang
OBJECTIVE: Familial hypercholesterolemia (FH) is the most common and serious monogenic disorder of lipid metabolism, causing premature coronary heart disease (CHD) due to accelerated atherosclerosis from birth, and the study of left ventricular (LV) function of this disease is seldom. The purpose of this study was to explore the value of layer-specific strain on assessing the early damage of LV function in asymptomatic and left ventricular ejection fraction (LVEF) well-preserved patients with heterozygous FH (HeFH)...
January 3, 2017: Echocardiography
https://www.readbyqxmd.com/read/28012444/carotid-artery-plaques-and-intima-medial-thickness-in-familial-hypercholesteraemic-patients-on-long-term-statin-therapy-a-case-control-study
#12
Sven Bos, Martijne H C Duvekot, Gert-Jan R Ten Kate, Adrie J M Verhoeven, Monique T Mulder, Arend F L Schinkel, Koen Nieman, Gerald F Watts, Eric J G Sijbrands, Jeanine E Roeters van Lennep
BACKGROUND AND AIMS: Statins reduce subclinical atherosclerosis and premature atherosclerotic cardiovascular disease (ASCVD) in patients with familial hypercholesterolemia (FH). However, some FH patients still develop ASCVD despite statin therapy. We compared subclinical atherosclerosis assessed by carotid plaque presence and intima media thickness (C-IMT), in long-term statin-treated FH patients and healthy controls. Furthermore, we analysed whether carotid ultrasonography findings associated with subclinical coronary atherosclerosis...
January 2017: Atherosclerosis
https://www.readbyqxmd.com/read/27993383/old-challenges-and-new-opportunities-in-the-clinical-management-of-heterozygous-familial-hypercholesterolemia-hefh-the-promises-of-pcsk9-inhibitors
#13
REVIEW
Marcello Arca
Heterozygous familial hypercholesterolemia (HeFH) is a common (early estimates suggested a prevalence of 1 in 500 individuals, but recent studies have indicated that it may be higher) genetic disorder characterized by markedly elevated plasma concentrations of low-density lipoprotein cholesterol (LDL-C). HeFH is associated with an elevated risk of premature coronary heart disease, stroke, and peripheral vascular disease. Despite the availability of reliable diagnostic criteria (high LDL-C levels, family history or premature CHD and hypercholesterolemia, cerebral/peripheral vascular disease, and the presence of tendon xanthomata or presence of arcus cornealis before age of 45), HeFH is underdiagnosed and undertreated worldwide...
January 2017: Atherosclerosis
https://www.readbyqxmd.com/read/27933557/atypical-presentation-and-treatment-response-in-a-child-with-familial-hypercholesterolemia-having-a-novel-ldlr-mutation
#14
S Varma, A D McIntyre, R A Hegele
Familial hypercholesterolemia (FH) is an autosomal codominantly inherited disease. The severity of clinical presentation depends on the zygosity of the mutations in the LDLR, APOB, or PCSK9 genes. The homozygous form (HoFH) is associated with high mortality rate by third decade of life, while individuals with HeFH begin to suffer from premature cardiovascular disease in fourth or fifth decade of life. Statin drugs have helped to improve the biochemical profile and life expectancy in HeFH, while they are only minimally effective in HoFH...
December 9, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27931859/contemporary-trends-in-the-management-and-outcomes-of-patients-with-familial-hypercholesterolemia-in-canada-a%C3%A2-prospective-observational-study
#15
Liam R Brunham, Lubomira Cermakova, Terry Lee, Ida Priecelova, Karine Alloul, Marilyn de Chantal, Gordon A Francis, Jiri Frohlich
BACKGROUND: Heterozygous familial hypercholesterolemia (HeFH) is one of the most common genetic diseases in the world and an important cause of premature cardiovascular (CV) disease. The purpose of this study was to characterize the clinical features, current treatment patterns, and CV outcomes of patients with HeFH in British Columbia, Canada. METHODS: We conducted a longitudinal observational study of patients with HeFH attending a specialized lipid clinic. We collected data on lipid levels, medication use, and CV events at baseline and last follow-up...
September 3, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/27908345/determining-when-to-add-nonstatin-therapy-a-quantitative-approach
#16
Jennifer G Robinson, Roeland Huijgen, Kausik Ray, Jane Persons, John J P Kastelein, Michael J Pencina
BACKGROUND: Costs and uncertainty about the benefits of nonstatin therapies limit their use. OBJECTIVES: The authors sought to identify patients who might benefit from the addition of a nonstatin to background statin therapy. METHODS: We performed systematic reviews of subgroup analyses from randomized trials and observational studies with statin-treated participants to determine estimated 10-year absolute risk of atherosclerotic cardiovascular disease (ASCVD) and to define high-risk and very high-risk patients...
December 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27888902/-unmet-needs-patients-with-statin-intolerance-or-familial-hypercholesterolemia
#17
Luis Masana, Fernando Civeira
The achievement of low-density lipoprotein (LDL) therapeutic targets is especially difficult in some patients at high cardiovascular risk. These patients include persons with statin intolerance and those with very high LDL cholesterol (LDLc) levels such as persons with familial hypercholesterolemia. The proportion of statin-intolerant patients is between 7% and 29%. Alternative lipid-lowering drugs (including ezetimibe) are less effective and are not free from adverse effects. Both alirocumab, with the ODYSSEY ALTERNATIVE study, and evolocumab, with the GAUSS study, have shown strong lipid-lowering efficacy, with much greater tolerability than currently available alternatives, with the result that a larger number of patients achieve therapeutic targets...
May 2016: Clínica e Investigación en Arteriosclerosis
https://www.readbyqxmd.com/read/27886619/open-label-therapy-with-alirocumab-in-patients-with-heterozygous-familial-hypercholesterolemia-results-from-three-years-of-treatment
#18
Robert Dufour, Jean Bergeron, Daniel Gaudet, Robert Weiss, G Kees Hovingh, Zhizhi Qing, Feng Yang, Matthew Andisik, Albert Torri, Robert Pordy, Daniel A Gipe
BACKGROUND: PCSK9 inhibition with alirocumab significantly reduced LDL-C levels in trials of up to 78weeks' duration in patients with heterozygous familial hypercholesterolemia (HeFH). We report results from 3years of an ongoing open-label treatment extension (NCT01576484) to a 12-week double-blind trial in HeFH patients (NCT01266876). METHODS: Patients who completed the parent study and were receiving stable daily statin±ezetimibe could enter the open-label extension, where they received alirocumab 150mg every 2 weeks (Q2W) subcutaneously (n=58)...
February 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/27878139/compound-heterozygous-ldlr-variant-in-severely-affected-familial-hypercholesterolemia-patient
#19
Faisal A Al-Allaf, Abdullah Alashwal, Zainularifeen Abduljaleel, Mohiuddin M Taher, Abdellatif Bouazzaoui, Hala Abalkhail, Ahmad F Al-Allaf, Mohammad Athar
Familial hypercholesterolemia (FH) is most commonly caused by mutations in the LDL receptor (LDLR), which is responsible for hepatic clearance of LDL from the blood circulation. We described a severely affected FH proband and their first-degree blood relatives; the proband was resistant to statin therapy and was managed on an LDL apheresis program. In order to find the causative genetic variant in this family, direct exon sequencing of the LDLR, APOB and PCSK9 genes was performed. We identified a compound heterozygous mutation in the proband with missense p...
November 23, 2016: Acta Biochimica Polonica
https://www.readbyqxmd.com/read/27861771/high-density-lipoprotein-associated-sphingosine-1-phosphate-activity-in-heterozygous-familial-hypercholesterolaemia
#20
Miguel A Frias, Aurélien Thomas, Marie-Claude Brulhart-Meynet, Oskar Kövamees, John Pernow, Mats Eriksson, Bo Angelin, Richard W James, Jonas W Brinck
BACKGROUND: Patients with heterozygous familial hypercholesterolaemia (FH) suffer from high plasma cholesterol and an environment of increased oxidative stress. We examined its potential effects on high-density lipoprotein (HDL)-associated sphingosine-1-phosphate (S1P) content (HDL-S1P) and HDL-mediated protection against oxidative stress, both with and without statin treatment. MATERIALS AND METHODS: In a case-control study, HDL was isolated from 12 FH patients with and without statin treatment and from 12 healthy controls...
January 2017: European Journal of Clinical Investigation
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