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Familial hypercholesterolemia

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https://www.readbyqxmd.com/read/28645073/analysis-of-ldlr-variants-from-homozygous-fh-patients-carrying-multiple-mutations-in-the-ldlr-gene
#1
Long Jiang, Asier Benito-Vicente, Ling Tang, Aitor Etxebarria, Wei Cui, Kepa B Uribe, Xiao-Dong Pan, Helena Ostolaza, Shi-Wei Yang, Yu-Jie Zhou, Cesar Martin, Lu-Ya Wang
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an autosomal dominant disease with widespread global prevalence that partially accounts for the high prevalence of premature coronary heart disease. Although the majority of research on FH has focused on single heterozygous LDLR mutations, there have been limited reports of double LDLR mutations on the same chromosome. The aim of this study was to gain insight into the clinical consequences of the presence of multiple mutations in the LDLR gene...
June 8, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28643240/pcsk9-inhibitors-treating-the-right-patients-in-daily-practice
#2
REVIEW
Peta King, Stephen J Nicholls
PURPOSE OF REVIEW: Monoclonal antibodies that inhibit proprotein convertase subtilisin/kexin type 9 (PCSK9) have emerged as a novel approach to low-density lipoprotein cholesterol (LDL-C) lowering. The potential role of PCSK9 inhibitors in clinical practice will be reviewed. RECENT FINDINGS: Clinical trials have demonstrated that PCSK9 inhibitors produce robust LDL-C lowering when administered either as monotherapy or in combination with statins. This provides the opportunity to achieve effective lipid lowering in familial hypercholesterolemia, patients with either established atherosclerotic cardiovascular disease or high risk primary prevention and an important opportunity to treat patients with statin intolerance...
August 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28639183/proprotein-convertase-subtilisin-kexin-type-9-pcsk9-and-its-inhibitors-a-review-of-physiology-biology-and-clinical-data
#3
REVIEW
Ashwin Durairaj, Alberto Sabates, Jonathan Nieves, Brian Moraes, Seth Baum
Atherosclerotic cardiovascular disease (ASCVD) remains the number one killer in the western world. Low-density lipoprotein cholesterol (LDL-C) reduction with statins and ezetimibe has been shown to reduce the risk of cardiovascular events. Now, proprotein convertase subtilisin/kexin type 9 (PCSK9) monoclonal antibodies (mabs) are available for high-risk individuals with ASCVD or familial hypercholesterolemia on maximally tolerated statin therapy but requiring greater LDL-C reduction. PCSK9 mab outcome trial results from the Further Cardiovascular Outcomes Research with PCSK9 Inhibitions in Subjects with Elevated Risk (FOURIER) study, which was presented at the American College of Cardiology in March 2017, which demonstrated a decrease of 15% in primary and 20% secondary end points over a 2-year period [1••]...
August 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28637586/soluble-lr11-associates-with-aortic-root-calcification-in-asymptomatic-treated-male-patients-with-familial-hypercholesterolemia
#4
Ranitha Vongpromek, Sven Bos, Gert-Jan R Ten Kate, Hideaki Bujo, Meizi Jiang, Koen Nieman, Wolfgang Schneider, Jeanine E Roeters van Lennep, Adrie J M Verhoeven, Eric J G Sijbrands, Monique T Mulder
BACKGROUND AND AIMS: Despite statin treatment, a high prevalence of severe vascular calcification is found in patients with familial hypercholesterolemia (FH). We assessed the relation between the circulating soluble form of low-density lipoprotein receptor relative with 11 ligand-binding repeats (sLR11), a risk factor for cardiovascular disease, and vascular calcification in asymptomatic statin-treated heterozygous FH patients. METHODS: In 123 asymptomatic heterozygous FH patients (age 40-69 years), aortic root (ARC), aortic valve (AVC) and coronary artery calcification (CAC) were determined with CT-based calcium scoring expressed in Agatston units...
June 9, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28631693/-independent-risk-factors-for-severe-cardiovascular-events-in-male-patients-with-gout-results-of-a-7-year-prospective-study
#5
M S Eliseev, I S Denisov, E I Markelova, S I Glukhova, E L Nasonov
AIM: To determine risk factors for severe cardiovascular (CV) events (CVEs) in male patients with crystal-verified gout. SUBJECTS AND METHODS: 251 male patients with crystal-verified gout were prospectively followed up in 2003 to 2013. The mean follow-up period was 6.9±2.0 years. New severe CVE cases and deaths were recorded. Logistic regression was used to analyze the impact of traditional and other risk factors and allopurinol use on the risk for severe CVEs...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28626179/two-patients-with-familial-hypercholesterolemia-who-were-successfully-weaned-from-low-density-lipoprotein-apheresis-after-treatment-with-evolocumab
#6
Akihito Tanaka, Daijo Inaguma, Yu Watanabe, Eri Ito, Naoki Kamegai, Hiroya Shimogushi, Hibiki Shinjo, Kiyomi Koike, Yasuhiro Otsuka, Asami Takeda
Two elderly patients (a 76-year-old man and a 75-year-old woman), who had been previously diagnosed with familial hypercholesterolemia (at 58 and 48 years of age, respectively) underwent long-term treatment with oral therapy and low-density lipoprotein (LDL) apheresis. As their LDL cholesterol levels remained high (>150 mg/dL and >120 mg/dL, respectively) and their familial hypercholesterolemia was complicated with angina pectoris, we added evolocumab to their prescription. Thereafter, their LDL cholesterol levels decreased rapidly, and the patients were successfully weaned from LDL apheresis...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28623954/efficacy-and-safety-of-alirocumab-in-patients-with-hypercholesterolemia-not-adequately-controlled-with-non-statin-lipid-lowering-therapy-or-the-lowest-strength-of-statin-odyssey-nippon-study-design-and-rationale
#7
Tamio Teramoto, Akira Kondo, Arihiro Kiyosue, Mariko Harada-Shiba, Yasushi Ishigaki, Kimimasa Tobita, Yumiko Kawabata, Asuka Ozaki, Marie T Baccara-Dinet, Masataka Sata
BACKGROUND: Statins are generally well-tolerated and serious side effects are infrequent, but some patients experience adverse events and reduce their statin dose or discontinue treatment altogether. Alirocumab is a highly specific, fully human monoclonal antibody to proprotein convertase subtilisin/kexin type 9 (PCSK9), which can produce substantial and sustained reductions of low-density lipoprotein cholesterol (LDL-C). METHODS: The randomized, double-blind, placebo-controlled, parallel-group, phase 3 ODYSSEY NIPPON study will explore alirocumab 150 mg every 4 weeks (Q4W) in 163 Japanese patients with hypercholesterolemia who are on the lowest-strength dose of atorvastatin (5 mg/day) or are receiving a non-statin lipid-lowering therapy (LLT) (fenofibrate, bezafibrate, ezetimibe, or diet therapy alone)...
June 17, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28623742/effect-of-intensive-ldl-cholesterol-lowering-with-pcsk9-monoclonal-antibodies-on-tendon-xanthoma-regression-in-familial-hypercholesterolemia
#8
Ana M Bea, Sofia Perez-Calahorra, Victoria Marco-Benedi, Itziar Lamiquiz-Moneo, Estibaliz Jarauta, Rocio Mateo-Gallego, Fernando Civeira
BACKGROUND AND AIMS: The effect of LDLc lowering with PCSK9 antibodies on tendon xanthomas (TX) is unknown. METHODS: TX was measured in 24 heterozygous familial hypercholesterolemia (HeFH) cases and in 24 HeFH controls with or without PCSK9 inhibitors for at least one year. RESULTS: Exposure to PCSK9 inhibitors in cases was 2.96 ± 1.33 years. LDLc decreased 80.8 ± 7.66% in cases and 56.9 ± 11.1% in controls. There was a decrease in maximum (-5...
June 8, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28619241/increased-subclinical-atherosclerosis-burden-in-familial-hypercholesterolemia-phenotype-what-do-genetic-defects-tell-us-and-what-are-the-clinical-implications
#9
EDITORIAL
Raul D Santos, Marcio H Miname
No abstract text is available yet for this article.
June 12, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28619117/the-elevation-of-plasma-concentrations-of-apob-48-containing-lipoproteins-in-familial-hypercholesterolemia-is-independent-of-pcsk9-levels
#10
Jean-Philippe Drouin-Chartier, Jean-Charles Hogue, André J Tremblay, Jean Bergeron, Benoît Lamarche, Patrick Couture
BACKGROUND: Previous studies have reported high plasma concentrations of both intestinal apolipoprotein (apo) B-48-containing lipoproteins and PCSK9 in subjects with familial hypercholesterolemia (FH). However, the extent to which LDL receptor deficiency and PCSK9 levels influence plasma apoB-48 concentrations in humans remains to be fully characterized. The objective of the study was to assess the independent association between FH, PCSK9 concentrations and plasma apoB-48 levels in a large cohort of genetically defined FH heterozygotes (HeFH) and homozygotes (HoFH)...
June 15, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28618994/role-of-anti-pcsk9-antibodies-in-the-treatment-of-patients-with-statin-intolerance
#11
Julia Schreml, Ioanna Gouni-Berthold
Statin intolerance is usually defined as the inability of a patient to tolerate statin-treatment due to muscle-related complaints. While randomised trials show that these complaints occure with similar frequency in patients receiving placebo, namely in up to ~5% of the subjects, data from registries as well as clinical experience indicate a much higher frequency of up to ~30%. The lack of standard definition or of a diagnostic marker of statin intolerance confounds the problem. The diagnosis remains subjective based on the symptoms the patient reports...
June 16, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28598687/lomitapide-for-the-treatment-of-hypercholesterolemia
#12
Amanda J Berberich, Robert A Hegele
Homozygous familial hypercholesterolemia (HoFH) is a serious rare inherited condition that leads to extremely elevated levels of low density lipoprotein cholesterol (LDL-C), and predisposes affected individuals to high risk of atherosclerotic vascular disease. Traditional therapies are largely ineffective in managing the hypercholesterolemia in these patients; diet and regular LDL-apheresis are the mainstays of management. Lomitapide is an inhibitor of microsomal triglyceride transfer protein (MTP) that blocks the assembly of metabolic precursors of LDL particles...
June 9, 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/28592434/effect-of-rosuvastatin-on-carotid-intima-media-thickness-in-children-with-heterozygous-familial-hypercholesterolemia-the-charon-study
#13
Marjet J A M Braamskamp, Gisle Langslet, Brian W McCrindle, David M Cassiman, Gordon A Francis, Claude Gagne, Daniel Gaudet, Katherine M Morrison, Albert Wiegman, Traci Turner, Elinor Miller, D Meeike Kusters, Joel S Raichlen, Paul D Martin, Evan A Stein, John J P Kastelein, Barbara A Hutten
Background -Heterozygous familial hypercholesterolemia (HeFH) is an autosomal dominant disorder leading to premature atherosclerosis. Children with HeFH exhibit early signs of atherosclerosis, manifested by increased carotid intima-media thickness (IMT). In this study, we assessed the effect of 2-year treatment with rosuvastatin on carotid IMT in HeFH children. Methods -Children with HeFH (aged 6 to <18 years) and low-density lipoprotein cholesterol (LDL-C) >4.9 mmol/L or >4.1 mmol/L in combination with other risk factors, received rosuvastatin for 2 years, starting at 5 mg once daily, with up-titration to 10 mg (aged 6 to <10 years) or 20 mg (aged 10 to <18 years)...
June 7, 2017: Circulation
https://www.readbyqxmd.com/read/28586437/psychological-issues-and-cognitive-impairment-in-adults-with-familial-hypercholesterolemia
#14
Mariana Suárez Bagnasco
A literature review about depression, anxiety, illness perception and neurocognitive impairment in adults with familial hypercholesterolemia (FH) was performed. Through PubMed and PsycINFO published studies from 1980 until March 2017 were searched. Two papers assessed depression and anxiety. Four papers explored illness perception. Five studies assessed cognitive impairment. Mean depression and anxiety scores were within normal range. From the reviewed research, it can be concluded that deficits in executive functioning and memory appear in FH patients between 18 and 40 years old, and mild cognitive impairment in older than 50...
June 6, 2017: Family Practice
https://www.readbyqxmd.com/read/28577571/genetic-determinants-of-inherited-susceptibility-to-hypercholesterolemia-a-comprehensive-literature-review
#15
REVIEW
C S Paththinige, N D Sirisena, Vhw Dissanayake
Hypercholesterolemia is a strong determinant of mortality and morbidity associated with cardiovascular diseases and a major contributor to the global disease burden. Mutations in four genes (LDLR, APOB, PCSK9 and LDLRAP1) account for the majority of cases with familial hypercholesterolemia. However, a substantial proportion of adults with hypercholesterolemia do not have a mutation in any of these four genes. This indicates the probability of having other genes with a causative or contributory role in the pathogenesis of hypercholesterolemia and suggests a polygenic inheritance of this condition...
June 2, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28576280/-familial-hypercholesterolemia-a-largely-underestimated-cardiovascular-risk
#16
J Ferrières, É Bruckert, S Béliard, J-P Rabès, M Farnier, M Krempf, B Cariou, N Danchin
BACKGROUND: Familial hypercholesterolemia is a monogenic autosomal dominant dyslipidemia characterized by a permanent and isolated increase of cholesterol carried by low-density lipoproteins. The prevalence of its heterozygous form is estimated between 1/500 and 1/250, and in the absence of specific treatment, this form is responsible for an increase by a factor of 13 of the risk of premature coronary artery disease compared to patients non-affected by the disease. OBJECTIVES: To perform an inventory of the knowledge of heterozygous familial hypercholesterolemia in France for physicians involved in the management of the disease...
May 30, 2017: Annales de Cardiologie et D'angéiologie
https://www.readbyqxmd.com/read/28572002/toward-an-international-consensus-integrating-lipoprotein-apheresis-and-new-lipid-lowering-drugs
#17
REVIEW
Claudia Stefanutti, Ulrich Julius, Gerald F Watts, Mariko Harada-Shiba, Maria Cossu, Volker J Schettler, Giustina De Silvestro, Handrean Soran, Jeanine Roeters Van Lennep, Livia Pisciotta, Hans U Klör, Kurt Widhalm, Patrick M Moriarty
BACKGROUND: Despite advances in pharmacotherapy of lipid disorders, many dyslipidemic patients do not attain sufficient lipid lowering to mitigate risk of atherosclerotic cardiovascular disease. Several classes of novel lipid-lowering agents are being evaluated to reduce atherosclerotic cardiovascular disease risk. Lipoprotein apheresis (LA) is effective in acutely lowering the plasma concentrations of atherogenic lipoproteins including low-density lipoprotein cholesterol and lipoprotein(a), and novel lipid-lowering drugs may dampen the lipid rebound effect of LA, with the possibility that LA frequency may be decreased, in some cases even be discontinued...
April 25, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28559401/association-between-endometriosis-and-hypercholesterolemia-or-hypertension
#18
Fan Mu, Janet Rich-Edwards, Eric B Rimm, Donna Spiegelman, John P Forman, Stacey A Missmer
An altered hormonal or chronic systemic inflammatory milieu characterizing endometriosis may result in a higher risk of hypercholesterolemia and hypertension. Conversely, elevated low-density lipoprotein in hypercholesterolemia and chronic systemic inflammation resulting from hypertension may increase the risk of endometriosis. We assessed the association of laparoscopically confirmed endometriosis with hypercholesterolemia and hypertension in a large prospective cohort study. In 1989, 116 430 registered female nurses aged 25 to 42 completed the baseline questionnaire and were followed for 20 years...
July 2017: Hypertension
https://www.readbyqxmd.com/read/28557865/the-emerging-role-of-proprotein-convertase-subtilisin-kexin-type-9-inhibition-in-secondary-prevention-from-clinical-trials-to-real-world-experience
#19
Amritanshu S Pandey, Harpreet S Bajaj, Vinay Garg, Avinash Pandey, Subodh Verma
PURPOSE OF REVIEW: The recent advent of a highly efficacious class of low-density lipoprotein cholesterol (LDL-C) lowering agents, the proprotein convertase subtilisin/kexin type-9 (PCSK9) inhibitors, has transformed dyslipidaemia management in patients with cardiovascular disease as well as those with familial hypercholesterolemia. RECENT FINDINGS: Recent positive results of the landmark Further Cardiovascular Outcomes Research with PCSK9 Inhibition in Subjects with Elevated Risk cardiovascular outcome trial with evolocumab as an add-on to statin therapy demonstrate further reduction of cardiovascular events...
May 26, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28555526/statin-intolerance-in-heterozygous-familial-hypercolesterolemia-with-cardiovascular-disease-after-pcsk-9-antibodies-what-else
#20
Francesco Sbrana, Beatrice Dal Pino, Federico Bigazzi, Andrea Ripoli, Claudio Passino, Alessandra Gabutti, Emilio M Pasanisi, Christina Petersen, Alessandro Valleggi, Giancarlo Todiere, Andrea Barison, Alberto Giannoni, Luca Panchetti, Francesco Becherini, Mascia Pianelli, Roberta Luciani, Tiziana Sampietro
Background Familial hypercholesterolemia is the elective clinical condition that deserves the maximal personalisation in lipid-lowering therapy, especially in the presence of statin intolerance. Proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors represent a promising approach to lower low-density lipoprotein (LDL) cholesterol. Methods We enrolled 18 patients (mean age 62 ± 8 years, 72% men) affected by heterozygous familial hypercholesterolemia and cardiovascular disease, with a history of statin intolerance assigned to PCSK9 inhibitors...
January 1, 2017: European Journal of Preventive Cardiology
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