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Familial hypercholesterolemia

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https://www.readbyqxmd.com/read/28726204/association-of-level-of-proprotein-convertase-subtilisin-kexin-type-9-with-intima-media-thickness-in-patients-with-familial-hypercholesterolemia
#1
K S Benimetskaya, Yu I Ragino, E V Shakhtshneider, K V Makarenkova, Yu V Shchepina, E M Stakhneva, M I Voevoda
We studied association of PCSK9 protein with the carotid artery intima-media thickness in patients with familial hypercholesterolemia (N=53; age 49.9±6.9 years) treated with statins. Blood level of PCSK9 protein was measured by ELISA; ultrasonography of the carotid arteries with measurement of the thickness of the intima-media complex of the common carotid arteries in the distal segment for 10 mm from the bifurcation on the far wall of the vessel was performed in on-line mode. The mean values were calculated for both sides, the maximum mean value was included in the analysis...
July 18, 2017: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28725328/heterozygous-familial-hypercholesterolemia-with-apoe-haplotype-a-prospective-harbinger-of-a-catastrophic-cardiovascular-event
#2
Glenmore Lasam, Siddesh Shambhu, Robert Fishberg
We report a very young man with heterozygous familial hypercholesterolemia (FH) with APOE haplotype and a significant cardiac family history who underwent cardiac catheterization for intermittent episodes of exertional dyspnea and was noted to have a severe triple vessel coronary artery disease (CAD). He underwent coronary artery bypass graft (CABG) surgery which was uneventful. He was discharged on antiplatelet, beta blocker, nitrate, and statin. On routine health maintenance evaluation, he had no cardiac complaints and had been tolerating well his activities of daily living...
June 2017: Cardiology Research
https://www.readbyqxmd.com/read/28724878/relationship-between-knowledge-of-cardiovascular-disease-risk-factors-and-watching-educational-television-materials-ma%C3%A5-opolska-cardiovascular-preventive-intervention-study-m-capri
#3
Anna Waśniowska, Grzegorz Kopeć, Jakub Podolec, Magdalena Kozela, Agnieszka Sarnecka, Klaudia Knap, Krystyna Szafraniec, Andrzej Pająk, Piotr Podolec
INTRODUCTION    The current guidelines on cardiovascular disease (CVD) prevention in clinical practice emphasizes on education in media in population-based approaches. OBJECTIVES    To assess the relationship between knowledge of CVD risk factors and watching educational television materials in the adult population. PATIENTS AND METHODS    After 22 months of repeated broadcasting of educational television materials, which addressed problems related to CVD, a postal survey was conducted on a random sample of 5000 persons aged 18 years or older...
July 4, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/28723334/angptl3-inhibition-in-homozygous-familial-hypercholesterolemia
#4
LETTER
Daniel Gaudet, Daniel A Gipe, Robert Pordy, Zahid Ahmad, Marina Cuchel, Prediman K Shah, Kuang-Yuh Chyu, William J Sasiela, Kuo-Chen Chan, Diane Brisson, Etienne Khoury, Poulabi Banerjee, Viktoria Gusarova, Jesper Gromada, Neil Stahl, George D Yancopoulos, G Kees Hovingh
New England Journal of Medicine, Volume 377, Issue 3, Page 296-297, July 2017.
July 20, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28719663/the-prevalence-of-familial-hypercholesterolemia-in-the-west-siberian-region-of-the-russian-federation-a-substudy-of-the-esse-rf
#5
Alexandra I Ershova, Alexey N Meshkov, Stepan S Bazhan, Marina A Storozhok, Alexey Y Efanov, Irina V Medvedeva, Elena V Indukaeva, Yana V Danilchenko, Olga K Kuzmina, Olga L Barbarash, Alexander D Deev, Svetlana A Shalnova, Sergey A Boytsov
BACKGROUND: The prevalence of familial hypercholesterolemia (FH) in Russia has not previously been evaluated. The aim of our study was to investigate the prevalence of FH in the population of the West Siberian region of Russia, and then estimate the frequency of coronary artery disease (CAD) and treatment with cholesterol-lowering medication in FH patients. METHODS: The sample of our study consisted of participants from the population-based cohort of The Epidemiology of Cardiovascular Risk Factors and Diseases in Regions of the Russian Federation Study (ESSE-RF), conducted in the Tyumen and Kemerovo regions (1,630 and 1,622 people, respectively, aged 25-64)...
2017: PloS One
https://www.readbyqxmd.com/read/28717233/effect-of-ldl-cholesterol-statins-and-presence-of-mutations-on-the-prevalence-of-type-2-diabetes-in-heterozygous-familial-hypercholesterolemia
#6
Elisenda Climent, Sofía Pérez-Calahorra, Victoria Marco-Benedí, Nuria Plana, Rosa Sánchez, Emilio Ros, Juan F Ascaso, Jose Puzo, Fátima Almagro, Carlos Lahoz, Fernando Civeira, Juan Pedro-Botet
Patients with heterozygous familial hypercholesterolemia (HeFH) have been reported to be less vulnerable to type 2 diabetes mellitus (T2DM), although the mechanism is unknown. The aims of the present study were to assess the effects of low density lipoprotein (LDL) cholesterol concentration and the presence of FH-causing mutations on T2DM prevalence in HeFH. Data were collected from the Dyslipidemia Registry of the Spanish Arteriosclerosis Society. Inclusion criteria were definite or probable HeFH in patients aged ≥18 years...
July 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28715059/the-cost-effectiveness-of-genetic-screening-for-familial-hypercholesterolemia-a-systematic-review
#7
A Rosso, E Pitini, E D'Andrea, A Massimi, C De Vito, C Marzuillo, P Villari
BACKGROUND: Familial hypercholesterolemia (FH) is a genetic disorder that leads to elevated plasma LDL-cholesterol levels and premature coronary heart disease (CHD). An understanding of the mutations responsible for FH and the effectiveness of statins in lowering the risk of CHD in FH patients has increased interest in genetic screening strategies to improve FH diagnosis. In this study, we aimed to evaluate the cost-effectiveness of such strategies. METHODS: We performed a systematic review of full economic evaluations that assessed the cost-effectiveness of FH genetic screening strategies...
September 2017: Annali di Igiene: Medicina Preventiva e di Comunità
https://www.readbyqxmd.com/read/28712132/impact-of-lipoprotein-apheresis-with-dextran-sulfate-adsorption-on-the-expression-of-genes-involved-in-cardiovascular-health-in-the-blood-of-patients-with-homozygous-familial-hypercholesterolemia
#8
Jean-Philippe Drouin-Chartier, André J Tremblay, Jean Bergeron, Nathalie Laflamme, Benoît Lamarche, Patrick Couture
Lipoprotein apheresis (LA) with dextran sulfate adsorption (DSA) is a reliable method to decrease LDL-cholesterol (C) concentrations in patients with homozygous familial hypercholesterolemia (HoFH). The objective of the present study was to investigate the impact of LA with DSA on the mRNA expression of genes associated with cardiovascular health in the whole blood of HoFH patients. Blood samples were collected before and after LA treatment with DSA in 9 HoFH patients. Microarray analyses were performed to measure the whole blood expression of >30 000 annotated genes pre- and post-LA...
July 16, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/28709786/-pcsk-9-inhibitors-effects-on-ldl-c-and-future-implications-what-you-should-know
#9
P Corral, A J Ruiz
The discovery of proprotein convertase subtilisin/kexin type 9 (PCSK9) in 2003 in families with familial hypercholesterolemia (HF) later generated the development of pharmacological strategies in order to inhibit this protein. Twelve years after this discovery, the first two biological compounds (monoclonal antibodies) were approved, which have been shown to substantially decrease LDL-C and other lipid subfractions. The objective of the present article is to review the history of the discovery of PCSK9, its physiology and pathophysiology and subsequent pharmacological development...
July 11, 2017: Hipertensión y Riesgo Vascular
https://www.readbyqxmd.com/read/28701632/clinical-features-and-gaps-in-the-management-of-probable-familial-hypercholesterolemia-and-cardiovascular-disease
#10
Barak Zafrir, Ayman Jubran, Gil Lavie, David A Halon, Moshe Y Flugelman, Chen Shapira
BACKGROUND: Familial hypercholesterolemia (FH) is associated with premature atherosclerotic cardiovascular disease (ASCVD). The introduction of potent therapeutic agents underlies the importance of improving clinical diagnosis and treatment gaps in FH.Methods and Results:A regional database of 1,690 adult patients with high-probability FH based on age-dependent peak-low-density lipoprotein cholesterol (LDL-C) cut-offs and exclusion of secondary causes of severe hypercholesterolemia, was examined to explore the clinical manifestations and current needs in the management of ASCVD, which was present in 248 patients (15%), of whom 83% had coronary artery disease (CAD); 19%, stroke; and 13%, peripheral artery disease...
July 12, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28697983/lipid-and-lipoprotein-reference-values-from-133-450-dutch-lifelines-participants-age-and-gender-specific-baseline-lipid-values-and-percentiles
#11
Jan W Balder, Jeroen K de Vries, Ilja M Nolte, Peter J Lansberg, Jan A Kuivenhoven, Pieter W Kamphuisen
BACKGROUND: Lipids and lipoproteins are recognized as the most important modifiable risk factors for cardiovascular disease. Although reference values for the major lipoproteins, low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol, and triglycerides, have been collected in numerous studies and cohorts, complete contemporary percentile-based reference values are underreported. OBJECTIVE: We set out to provide such reference lipid data using a large contemporary population-based cohort study...
June 1, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28696550/two-novel-variants-of-the-abcg5-gene-cause-xanthelasmas-and-macrothrombocytopenia-a-brief-review-of-hematological-abnormalities-of-sitosterolemia
#12
J M Bastida, R Benito, K Janusz, M Díez-Campelo, J M Hernández-Sánchez, S Marcellini, M Girós, J Rivera, M L Lozano, A Hortal, J M Hernández-Rivas, J R González-Porras
BACKGROUND: Sitosterolemia (STSL) is a recessive inherited disorder caused by pathogenic variants in ABCG5 and ABCG8 genes. Increased levels of plasma plant sterols (PS) usually produce xanthomas and premature coronary atherosclerosis, although hematological abnormalities may occasionally be present. This clinical picture is unfamiliar to many physicians, and patients may be at high risk of misdiagnosis. OBJECTIVES: To report two novel ABCG5 gene variants causing STSL in a Spanish patient, and review the clinical and mutational landscape of STSL...
July 11, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28695455/pcsk9-inhibitors-for-treating-dyslipidemia-in-patients-at-different-cardiovascular-risk-a-systematic-review-and-a-meta-analysis
#13
Alessandro Squizzato, Matteo Basilio Suter, Marta Nerone, Robert Patrick Giugliano, Francesco Dentali, Andrea Maria Maresca, Leonardo Campiotti, Anna Maria Grandi, Luigina Guasti
Statin-induced lowering of low-density lipoprotein cholesterol (LDL-C) reduces cardiovascular morbidity and mortality, but many patients do not adequately reduce their LDL-C levels. Monoclonal antibodies targeting PCKS9 are currently in the advanced phase of development. We aimed to investigate the efficacy and safety of PCSK9 inhibitors in patients at different cardiovascular risk in a systematic review. Studies were searched on MEDLINE and EMBASE until January 2016. Differences in the outcomes among groups were expressed as mean differences, or pooled odds ratio (OR) and corresponding 95% confidence interval (CI), which were calculated using a fixed-effects and a random-effects model...
July 10, 2017: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/28689098/evaluation-of-clinical-and-laboratory-parameters-used-in-the-identification-of-index-cases-for-genetic-screening-of-familial-hypercholesterolemia-in-brazil
#14
Pãmela R S Silva, Cinthia E Jannes, Theo G M Oliveira, Marcio H Miname, Viviane Z Rocha, Ana Paula Chacra, Maria Helane C Gurgel, Renan M Montenegro, Carlos Roberto M Rodrigues Sobrinho, Annie Seixas Bello Moreira, Marcelo H V Assad, Marina R C Pinto, Mauricio Teruo Tada, Raul D Santos, Alexandre C Pereira, Jose E Krieger
BACKGROUND AND AIMS: There is controversy on the accuracy of different diagnostic criteria for familial hypercholesterolemia (FH). The aim of this study is to assess the performance of different clinical criteria used to identify individuals for FH genetic cascade screening in Brazil. METHODS: All index cases (IC) registered in the Hipercol Brasil program between 2011 and 2016 were analyzed. Inclusion criteria were age ≥18 years and elevated LDL-cholesterol (LDL-C) levels, with a conclusive result in the genetic test, whether positive or negative...
June 22, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28685504/statins-for-children-with-familial-hypercholesterolemia
#15
REVIEW
Alpo Vuorio, Jaana Kuoppala, Petri T Kovanen, Steve E Humphries, Serena Tonstad, Albert Wiegman, Euridiki Drogari, Uma Ramaswami
BACKGROUND: Familial hypercholesterolemia is one of the most common inherited metabolic diseases and is an autosomal dominant disorder meaning heterozygotes, or carriers, are affected. Those who are homozygous have severe disease. The average worldwide prevalence of heterozygous familial hypercholesterolemia is at least 1 in 500, although recent genetic epidemiological data from Denmark and next generation sequencing data suggest the frequency may be closer to 1 in 250. Diagnosis of familial hypercholesterolemia in children is based on elevated total cholesterol and low-density lipoprotein cholesterol levels or DNA-based analysis, or both...
July 7, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28682808/protein-changes-in-non-ldl-lipoproteins-in-familial-hypercholesterolemia-implications-in-cardiovascular-disease-manifestation-and-outcome
#16
Lina Badimon, Teresa Padró, Judit Cubedo
PURPOSE OF REVIEW: Familial hypercholesterolemia, represents one of the most extreme clinical entities associated with premature coronary artery disease (CAD). However, clinical manifestation of CAD varies across cohorts and individual patients suggesting the existence of additional non-LDL factors potentially contributing to their cardiovascular burden. RECENT FINDINGS: Changes in HDL-associated proteins appear as one of the potential additional factors contributing to the cardiovascular risk in familial hypercholesterolemia...
July 5, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28681648/statin-therapy-and-risk-of-diabetes-mellitus-in-aging-patients-with-heterozygous-familial-hypercholesterolemia-or-familial-combined-hyperlipidemia-a-10-year-follow-up
#17
Ioannis Skoumas, Nikolaos Ioakeimidis, Charalambos Vlachopoulos, Christina Chrysohoou, Christos Michalakeas, Christos Georgakopoulos, Vicky Katsi, Demosthenes Panagiotakos, Dimitrios Tousoulis
We assessed the incidence of diabetes mellitus (DM) in patients with heterozygous familial hypercholesterolemia (HeFH) and familial combined hyperlipidemia (FCH) treated with statins. Participants (n = 280) of mean age 59 ± 5 years were included (90 patients with HeFH, 112 patients with FCH, and 78 aged-matched participants). The median statin intensity treatment product (statin intensity in arbitrary equivalence units × duration of statin therapy in months) was 119 and 85 for patients with HeFH and FCH, respectively, at 10-year follow-up...
January 1, 2017: Angiology
https://www.readbyqxmd.com/read/28663044/carotid-artery-plaques-are-risk-factors-the-same-in-men-and-women-with-familial-hypercholesterolemia
#18
Małgorzata Waluś-Miarka, Danuta Czarnecka, Małgorzata Kloch-Badełek, Wiktoria Wojciechowska, Maria Kapusta, Maciej T Malecki
BACKGROUND AND AIMS: High low-density lipoprotein (LDL)-cholesterol levels are a major cause of premature coronary heart disease (CHD) and death in patients with familial hypercholesterolemia (FH). It is uncertain whether these risk factors affect men and women equally. We aimed to compare the risk factors of carotid plaques, which are reliable surrogates of coronary atherosclerosis, in men and women with FH. METHODS: 154 patients with FH (40.9% men) were included, diagnosed according to Simon Broome criteria...
June 21, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28659805/statins-and-new-onset-diabetes-mellitus-ldl-receptor-may-provide-a-key-link
#19
Qi Yu, Ying Chen, Cang-Bao Xu
Numerous studies have noted that populations treated with statins have increased risk for new-onset diabetes mellitus; however, the underlying molecular mechanisms are not fully understood. Interestingly, familial hypercholesterolemia (FH) patients with mutations in the low-density lipoprotein receptor (LDLR) gene are protected against diabetes mellitus (DM), despite these patients being subjected to long-term statin therapy. Since the common pathway between FH and statin therapy is LDLR-mediated cellular cholesterol uptake, the arising question is whether the LDLR plays an important role in the diabetogenic effect of statins...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28652832/cognitive-behavioral-therapy-to-aid-weight-loss-in-obese-patients-current-perspectives
#20
REVIEW
Gianluca Castelnuovo, Giada Pietrabissa, Gian Mauro Manzoni, Roberto Cattivelli, Alessandro Rossi, Margherita Novelli, Giorgia Varallo, Enrico Molinari
Obesity is a chronic condition associated with risk factors for many medical complications and comorbidities such as cardiovascular diseases, some types of cancer, osteoarthritis, hypertension, dyslipidemia, hypercholesterolemia, type-2 diabetes, obstructive sleep apnea syndrome, and different psychosocial issues and psychopathological disorders. Obesity is a highly complex, multifactorial disease: genetic, biological, psychological, behavioral, familial, social, cultural, and environmental factors can influence in different ways...
2017: Psychology Research and Behavior Management
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