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Heterozygous familial hypercholesterolemia

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https://www.readbyqxmd.com/read/28444187/modelling-the-cost-effectiveness-pcsk9-inhibitors-vs-ezetimibe-through-ldl-c-reductions-in-a-norwegian-setting
#1
Max Korman, Torbjørn Wisløff
Aims: Despite the success of statins, there remains unmet clinical need in cardiovascular disease (CVD) prevention. New proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors reduce low-density lipoprotein cholesterol (LDL-C) by 55-65%. Two PCSK9 inhibitors, evolocumab and alirocumab, were approved for use in Norway but not yet for reimbursement through public national insurance. We aim to explore the cost-effectiveness of these compared to available treatments in a Norwegian setting...
April 21, 2017: European Heart Journal. Cardiovascular Pharmacotherapy
https://www.readbyqxmd.com/read/28437620/american-association-of-clinical-endocrinologists-and-american-college-of-endocrinology-guidelines-for-management-of-dyslipidemia-and-prevention-of-cardiovascular-disease
#2
Paul S Jellinger, Yehuda Handelsman, Paul D Rosenblit, Zachary T Bloomgarden, Vivian A Fonseca, Alan J Garber, George Grunberger, Chris K Guerin, David S H Bell, Jeffrey I Mechanick, Rachel Pessah-Pollack, Kathleen Wyne, Donald Smith, Eliot A Brinton, Sergio Fazio, Michael Davidson
OBJECTIVE: The development of these guidelines is mandated by the American Association of Clinical Endocrinologists (AACE) Board of Directors and American College of Endocrinology (ACE) Board of Trustees and adheres with published AACE protocols for the standardized production of clinical practice guidelines (CPGs). METHODS: Recommendations are based on diligent reviews of the clinical evidence with transparent incorporation of subjective factors, according to established AACE/ACE guidelines for guidelines protocols...
April 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28434814/novel-protein-biomarkers-associated-with-coronary-artery-disease-in-statin-treated-patients-with-familial-hypercholesterolemia
#3
Sven Bos, Michael Phillips, Gerald F Watts, Adrie J M Verhoeven, Eric J G Sijbrands, Natalie C Ward
BACKGROUND: Familial hypercholesterolemia (FH) is the most common and serious monogenic disorder of lipid metabolism. The incidence of coronary artery disease (CAD) varies among both treated and untreated FH patients. OBJECTIVE: The aim of the study was to utilize proteomics to identify novel protein biomarkers that differentiate genetically confirmed heterozygous patients with FH at high CAD risk from those at low CAD risk. METHODS: Sixty genetically confirmed FH patients were recruited and stratified into (1) asymptomatic FH with low atherosclerotic burden (FH, n = 20); (2) asymptomatic FH with high atherosclerotic burden (FH + Ca, n = 20); and (3) FH with previously confirmed symptomatic CAD (FH + CAD, n = 20)...
April 4, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28391901/low-density-lipoprotein-receptor-negative-compound-heterozygous-familial-hypercholesterolemia-two-lifetime-journeys-of-lipid-lowering-therapy
#4
Reyhana Yahya, Monique T Mulder, Eric J G Sijbrands, Monique Williams, Jeanine E Roeters van Lennep
We present the case history of 2 patients with low-density lipoprotein receptor-negative compound heterozygous familial hypercholesterolemia who did not receive lipoprotein apheresis. We describe the subsequent effect of all lipid-lowering medications during their life course including resins, statins, ezetimibe, nicotinic acid/laropiprant, mipomersen, and lomitapide. These cases tell the story of siblings affected with this rare disease, who are free of symptoms but still are at a very high cardiovascular disease risk, and their treatment from childhood...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28391899/heterozygous-familial-hypercholesterolemia-presenting-as-chylomicronemia-syndrome
#5
Robert S Rosenson, Sherwin D Najera, Robert A Hegele
Heterozygous familial hypercholesterolemia (HeFH) is characterized by a twofold elevation in low-density lipoprotein cholesterol. Severe elevations in triglycerides are an uncommon manifestation. In this case report, we discuss an atypical presentation of the chylomicronemia syndrome in a patient with HeFH. Genetic analyses of the low-density lipoprotein receptor mutation and single nucleotide polymorphisms that elevate triglycerides provide confirmation for this atypical presentation of HeFH.
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28391886/efficacy-and-safety-of-the-proprotein-convertase-subtilisin-kexin-type-9-monoclonal-antibody-alirocumab-vs-placebo-in-patients-with-heterozygous-familial-hypercholesterolemia
#6
John J P Kastelein, G Kees Hovingh, Gisle Langslet, Marie T Baccara-Dinet, Daniel A Gipe, Umesh Chaudhari, Jian Zhao, Pascal Minini, Michel Farnier
BACKGROUND: Patients with heterozygous familial hypercholesterolemia (HeFH) are characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels. Long-term effects of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibition have not been thoroughly investigated in these patients. OBJECTIVE: We evaluated efficacy and safety of alirocumab, a PCSK9 inhibitor, vs placebo in patients with HeFH. METHODS: In total, 1257 patients with HeFH on maximally tolerated statin ± other lipid-lowering therapies from four 78-week ODYSSEY trials were analyzed...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28391882/clinical-and-molecular-aspects-of-familial-hypercholesterolemia-in-ibero-american-countries
#7
Raul D Santos, Mafalda Bourbon, Rodrigo Alonso, Ada Cuevas, Norma Alexandra Vasques-Cardenas, Alexandre C Pereira, Alonso Merchan, Ana Catarina Alves, Ana Margarida Medeiros, Cinthia E Jannes, Jose E Krieger, Laura Schreier, Leopoldo Perez de Isla, Maria Teresa Magaña-Torres, Mario Stoll, Nelva Mata, Nicolas Dell Oca, Pablo Corral, Sylvia Asenjo, Virginia G Bañares, Ximena Reyes, Pedro Mata
BACKGROUND: There is little information about familial hypercholesterolemia (FH) epidemiology and care in Ibero-American countries. The Ibero-American FH network aims at reducing the gap on diagnosis and treatment of this disease in the region. OBJECTIVE: To describe clinical, molecular, and organizational characteristics of FH diagnosis in Argentina, Brazil, Chile, Colombia, Mexico, Portugal, Spain, and Uruguay. METHODS: Descriptive analysis of country data related to FH cascade screening, molecular diagnosis, clinical practice guidelines, and patient organization presence in Ibero-America...
January 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28390853/familial-hypercholesterolemia-in-childhood-and-adolescents-a-hidden-reality
#8
Núria Plana, Cèlia Rodríguez-Borjabad, Daiana Ibarretxe, Lluís Masana
Familial hypercholesterolemia (FH) is the most common genetic disorder in childhood, but in most cases is not detected. High levels of low-density lipoprotein cholesterol are present since the child's birth and this fact will suppose silent development of early atherosclerosis. In cases of homozygous FH, the coronary disease will appear before 20s and in cases of heterozygous FH will occur in middle age. Despite published data, there is not agreement about how and when perform the screening. Familial history of early cardiovascular disease plus presence of hypercholesterolemia in parents is crucial for detection and diagnosis...
April 5, 2017: Clínica e Investigación en Arteriosclerosis
https://www.readbyqxmd.com/read/28379034/lipoprotein-apheresis-in-the-treatment-of-dyslipidaemia-the-czech-republic-experience
#9
V Bláha, M Bláha, M Lánská, D Solichová, L Kujovská Krčmová, E Havel, P Vyroubal, Z Zadák, P Žák, L Sobotka
In 1984, we started using therapeutic plasmapheresis (plasma exchange) as a method of extracorporeal lipoprotein elimination for the treatment of hypercholesterolemic patients. We evaluated the results of long-term therapy in 14 patients, 8 men and 6 women. The average age was 55.6+/-13.2 (range 28-70), median 59.5 years. 14 patients were diagnosed with familial hypercholesterolemia (FH): 5 homozygous, 9 heterozygous. Ten patients in the group were treated using immunoadsorption lipoprotein apheresis and 4 using hemorheopheresis...
April 5, 2017: Physiological Research
https://www.readbyqxmd.com/read/28353356/causative-mutations-and-premature-cardiovascular-disease-in-patients-with-heterozygous-familial-hypercholesterolaemia
#10
Paolo Rubba, Marco Gentile, Gennaro Marotta, Arcangelo Iannuzzi, Marta Sodano, Biagio De Simone, Fabrizio Jossa, Gabriella Iannuzzo, Carola Giacobbe, Maria D Di Taranto, Giuliana Fortunato
Background Familial hypercholesterolemia is a common autosomal dominant disease, caused by mutations leading to elevated low-density lipoprotein (LDL) cholesterol and, if untreated, to premature cardiovascular disease. Methods Patients (young adults with a family history of hypercholesterolaemia or premature cardiovascular disease) with LDL cholesterol concentration ≥4.9 mmol/l, after excluding Familial Combined Hyperlipidaemia, were evaluated for causative mutations, Dutch Lipid Clinic Network score calculation and non-invasive ultrasound examination of carotid arteries...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28319449/non-clinical-study-examining-aav8-tbg-hldlr-vector-associated-toxicity-in-chow-fed-wild-type-and-ldlr-rhesus-macaques
#11
Jenny A Greig, Maria P Limberis, Peter Bell, Shu-Jen Chen, Roberto Calcedo, Daniel J Rader, James M Wilson
Vectors based on adeno-associated virus serotype 8 (AAV8) have been evaluated in several clinical trials of gene therapy for hemophilia B with encouraging results. In preparation for a Phase 1 clinical trial of AAV8 gene therapy for the treatment of homozygous familial hypercholesterolemia (HoFH), the safety of the clinical candidate vector, AAV8.TBG.hLDLR, was evaluated in wild-type rhesus macaques and macaques heterozygous for a nonsense mutation in the low-density lipoprotein receptor (LDLR) gene (LDLR(+/-))...
March 2017: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/28284630/treatment-of-heterozygous-familial-hypercholesterolemia-in-children-and-adolescents-an-unsolved-problem
#12
Fernando Civeira, Nuria Plana
No abstract text is available yet for this article.
March 8, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28277798/alirocumab-for-the-treatment-of-hypercholesterolemia
#13
Brian Tomlinson, Miao Hu, Yuzhen Zhang, Paul Chan, Zhong-Min Liu
Alirocumab is a human monoclonal antibody inhibiting proprotein convertase subtilisin/kexin type 9 (PCSK9) that is administered by subcutaneous injection every 2 weeks. Area covered: Herein, the authors discuss the background to inhibition of PCSK9 and the pharmacodynamics, pharmacokinetics and clinical trials with alirocumab. Alirocumab produces substantial reductions in low density lipoprotein cholesterol (LDL-C) in patients with and without background statin treatment. The safety profile appears very promising from the relatively short term studies that have been completed but there are some remaining concerns about long term risks of neurocognitive events and developing diabetes...
March 20, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/28225288/screenpro-fh-screening-project-for-familial-hypercholesterolemia-in-central-southern-and-eastern-europe-basic-epidemiology
#14
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
#15
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...
March 1, 2017: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/28169949/molecular-basis-of-familial-hypercholesterolemia
#16
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
#17
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
#18
MULTICENTER STUDY
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
#19
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...
March 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
#20
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
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