keyword
MENU ▼
Read by QxMD icon Read
search

Familial hypercholesterolemia

keyword
https://www.readbyqxmd.com/read/28812389/evolocumab-for-the-treatment-of-hypercholesterolemia
#1
Brian Tomlinson, Miao Hu, Yuzhen Zhang, Paul Chan, Zhong-Min Liu
Evolocumab is a fully human monoclonal immunoglobulin G2 directed against human proprotein convertase subtilisin/kexin type 9 (PCSK9). It is administered by subcutaneous injection every 2 weeks or once monthly. Area covered: Herein, the authors discuss the rationale for inhibiting PCSK9 and describe the pharmacodynamics, pharmacokinetics and clinical trials with evolocumab. Evolocumab reduces low density lipoprotein cholesterol (LDL-C) levels by 50 to 60% in most patients with and without background treatment with statins or other lipid lowering agents...
August 16, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/28810550/2d-sti-combined-with-gated-99-tc-m-mibi-mpi-for-the-diagnosis-of-myocardial-ischemia-in-hypercholesterolemia-patients
#2
Yi Song, Rui-Fang Zhang, Yu Liu
This study aimed to investigate the reliability of ultrasound two-dimensional speckle tracking imaging (2D-STI) for the evaluation of myocardial ischemia in familial hypercholesterolemia (FH) patients. We recruited 28 patients clinically diagnosed with homozygous familial hypercholesterolemia (HoFH) and subjected them to 2D-STI, gated transthoracic Doppler echocardiography (TTDE), and (99)Tc(m)-methoxyisobutylisonitrile myocardial perfusion imaging ((99)Tc(m)-MIBI MPI). The sensitivity, specificity and diagnostic accordance rate of TTDE and 2D-STI for myocardial ischemia in HoFH patients were compared with the (99)Tc(m)-MIBI scores...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28807459/rapidly-progressive-atherosclerosis-after-domino-liver-transplantation-from-a-teenage-donor-with-homozygous-familial-hypercholesterolemia
#3
Jessica R Golbus, Linda Farhat, Robert J Fontana, Melvyn Rubenfire
Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by impaired clearance of low-density lipoprotein cholesterol. Given limitations in pharmacologic therapy and the significant morbidity and mortality associated with this disease, liver transplantation may be offered to select homozygous FH patients in childhood in an effort to slow progression of atherosclerotic cardiovascular disease. In rare cases, domino liver transplantation can be performed, transplanting the livers of patients with various metabolic disorders into elderly recipients whose projected survival precludes prolonged waiting on the transplant list...
July 22, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28801029/cardiovascular-disease-in-familial-hypercholesterolemia-validation-and-refinement-of-the-montreal-fh-score
#4
Martine Paquette, Diane Brisson, Robert Dufour, Étienne Khoury, Daniel Gaudet, Alexis Baass
BACKGROUND: Familial hypercholesterolemia (FH) is a disease characterized by increased low-density lipoprotein cholesterol and premature cardiovascular disease (CVD) but there is marked individuality in the occurrence of CVD events. Recently, the Montreal-FH-SCORE (MFHS) has been shown to stratify CVD frequency in FH subjects, but this score has not yet been validated. OBJECTIVE: The aims of the present study were to conduct an independent external validation of the MFHS in a retrospective cohort of heterozygous FH and to identify additional variables that could significantly improve the prediction of prevalent CVD...
July 27, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28798072/the-roles-of-apo-a-size-phenotype-and-dominance-pattern-in-pcsk9-inhibition-induced-reduction-in-lp-a-with-alirocumab
#5
Byambaa Enkhmaa, Erdembileg Anuurad, Wei Zhang, Kun Yue, Ching-Shang Li, Lars Berglund
An elevated level of lipoprotein(a) [Lp(a)] is a risk factor for cardiovascular disease. Alirocumab, a monoclonal antibody to proprotein convertase subtilisin/kexin type 9, is reported to reduce Lp(a) levels. The relationship of Lp(a)-reduction with apolipoprotein(a) [apo(a)] size polymorphism, phenotype, and dominance pattern and LDL-C-reduction was evaluated in a pooled analysis of 155 hypercholesterolemic patients (75 with heterozygous familial hypercholesterolemia) from 2 clinical trials. Alirocumab significantly reduced total Lp(a) (pooled median: -21%, p=0...
August 10, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28777095/pcsk-9-gain-of-function-mutations-r496w-and-d374y-and-clinical-cardiovascular-characteristics-in-a-cohort-of-turkish-patients-with-familial-hypercholesterolemia
#6
Esra Kaya, Meral Kayıkçıoğlu, Aslı Tetik Vardarlı, Zuhal Eroğlu, Serdar Payzın, Levent Can
OBJECTIVE: The molecular basis of the mutations in the PCSK9 gene that produces familial hypercholesterolemia (FH) in the Turkish population is unknown. This study was conducted to determine the presence of four different PCSK9 gain-of-function (GOF) mutations (F216L, R496W, S127R, and D374Y) in a group of patients with FH. METHODS: A total of 80 consecutive patients with FH (mean age: 56±11 years; mean maximum LDL cholesterol: 251±76 mg/dL) were included in the study...
August 2, 2017: Anatolian Journal of Cardiology
https://www.readbyqxmd.com/read/28772107/family-specific-aggregation-of-lipid-gwas-variants-confers-the-susceptibility-to-familial-hypercholesterolemia-in-a-large-austrian-family
#7
Elina Nikkola, Arthur Ko, Marcus Alvarez, Rita M Cantor, Kristina Garske, Elliot Kim, Stephanie Gee, Alejandra Rodriguez, Reinhard Muxel, Niina Matikainen, Sanni Söderlund, Mahdi M Motazacker, Jan Borén, Claudia Lamina, Florian Kronenberg, Wolfgang J Schneider, Aarno Palotie, Markku Laakso, Marja-Riitta Taskinen, Päivi Pajukanta
BACKGROUND AND AIMS: Hypercholesterolemia confers susceptibility to cardiovascular disease (CVD). Both serum total cholesterol (TC) and LDL-cholesterol (LDL-C) exhibit a strong genetic component (heritability estimates 0.41-0.50). However, a large part of this heritability cannot be explained by the variants identified in recent extensive genome-wide association studies (GWAS) on lipids. Our aim was to find genetic causes leading to high LDL-C levels and ultimately CVD in a large Austrian family presenting with what appears to be autosomal dominant inheritance for familial hypercholesterolemia (FH)...
July 22, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28767354/xanthomas-in-familial-hypercholesterolemia
#8
Amitabh Poonia, Priya Giridhara
A 13-year-old boy presented to a primary care clinic with skin lesions on his buttocks, elbow, and knees (Panels A, B, and C). The lesions were initially noted when he was 5 years of age, but no medical care was sought until similar lesions were apparent in his younger brother several years later..
August 3, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28765036/world-heart-federation-cholesterol-roadmap
#9
Adrianna Murphy, Jose R Faria-Neto, Khalid Al-Rasadi, Dirk Blom, Alberico Catapano, Ada Cuevas, Francisco Lopez-Jimenez, Pablo Perel, Raul Santos, Allan Sniderman, Rody Sy, Gerald F Watts, Dong Zhao, Salim Yusuf, David Wood
BACKGROUND: The World Heart Federation has undertaken an initiative to develop a series of Roadmaps. OBJECTIVES: The aim of these is to promote development of national policies and health systems approaches and identify potential roadblocks on the road to effective prevention, detection and management of cardiovascular disease (CVD) in low-and middle-income countries (LMIC), and strategies for overcoming these. This Roadmap focuses on elevated blood cholesterol, a leading risk factor for myocardial infarction, stroke, and peripheral arterial disease...
July 29, 2017: Global Heart
https://www.readbyqxmd.com/read/28764195/whole-exomes-sequencing-delineates-gene-variants-profile-in-a-young-saudi-male-with-familial-hypercholesterolemia-case-report
#10
Edem Nuglozeh
Familial hypercholesterolemia is an autosomal dominant genetic disease characterized by earlier elevated Low-Density Lipoprotein (LDL) cholesterol levels and increased risk for premature Myocardial Infarction (MI). Albeit the diagnosis of some medical Familial Hypercholesterolemia (FH) cases are due to mutations in PCSK9, APOB, or LDLR, detection of mutation rate and profiles relies heavily on different gene pools and ethnicity. We ran exome sequencing on blood genomic DNA (gDNA) from a 26-year-old Saudi patient on Ion Proton Platform (Ion Torrent, Guilford, Connecticut, USA) as part of a pilot study preluding the establishment of the Saudi Human Genome project...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28762942/-recommendations-of-the-european-society-of-cardiology-and-the-european-atherosclerosis-society-on-cardiovascular-disease-prevention-and-management-of-dyslipidemias-for-the-diagnosis-of-atherosclerosis-and-dyslipidemia-treatment-2016-basic-s-g
#11
M G Bubnova, V V Kukharchuk
This review summarizes the main provisions of the new, issued in 2016, recommendations of the European Society of Cardiology and Atherosclerosis Society in cooperation with the European Association on Cardiovascular Prevention and Rehabilitation on Cardiovascular disease prevention and Management of dyslipidemia. In these recommendations, the following trends can be traced distinctly: priority in primary prevention is given to non-drug methods of influence; targets of hypolipidemic therapy are identified not only for low density lipoprotein (LDL) cholesterol (CH), but also for non-high density lipoprotein (HDL) CH, especially in cases of concomitant hypertriglyceridemia...
March 2017: Kardiologiia
https://www.readbyqxmd.com/read/28761763/premature-valvular-heart-disease-in-homozygous-familial-hypercholesterolemia
#12
Akl C Fahed, Kamel Shibbani, Rabih R Andary, Mariam T Arabi, Robert H Habib, Denis D Nguyen, Fady F Haddad, Elie Moubarak, Georges Nemer, Sami T Azar, Fadi F Bitar
Valvular heart disease frequently occurs as a consequence of premature atherosclerosis in individuals with familial hypercholesterolemia (FH). Studies have primarily focused on aortic valve calcification in heterozygous FH, but there is paucity of data on the incidence of valvular disease in homozygous FH. We performed echocardiographic studies in 33 relatively young patients (mean age: 26 years) with homozygous FH (mean LDL of 447 mg/dL, 73% on LDL apheresis) to look for subclinical valvulopathy. Twenty-one patients had evidence of valvulopathy of the aortic or mitral valves, while seven subjects showed notable mitral regurgitation...
2017: Cholesterol
https://www.readbyqxmd.com/read/28756723/novel-pharmacological-treatments-for-children-and-adolescents-with-heterozygous-familial-hypercholesterolemia
#13
Albert Wiegman, Barbara A Hutten
No abstract text is available yet for this article.
July 29, 2017: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/28744103/clinical-utility-of-evolocumab-in-the-management-of-hyperlipidemia-patient-selection-and-follow-up
#14
REVIEW
Dave L Dixon, Leo F Buckley, Cory R Trankle, Dinesh Kadariya, Antonio Abbate
Inhibition of PCSK9 is a novel therapeutic strategy aimed at reducing low-density-lipoprotein cholesterol (LDL-C) and cardiovascular risk. Evolocumab is a fully humanized monoclonal antibody that inhibits PCSK9, an enzyme that binds to LDL receptors and prevents them from recycling to the hepatocyte surface. Clinical trials have demonstrated 50%-70% reductions in LDL-C with evolocumab when used in combination with statin therapy. The recent FOURIER trial demonstrated that evolocumab further reduces cardiovascular events, but not mortality, in high-risk patients already receiving statin therapy...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/28742895/cascade-screening-for-familial-hypercholesterolemia-and-the-use-of-genetic-testing
#15
Joshua W Knowles, Daniel J Rader, Muin J Khoury
No abstract text is available yet for this article.
July 25, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28740397/eligibility-for-alirocumab-or-evolocumab-treatment-in-1090-hypercholesterolemic-patients-referred-to-a-regional-cholesterol-treatment-center-with-ldl-cholesterol-%C3%A2-70-mg-dl-despite-maximal-tolerated-ldl-cholesterol-lowering-therapy
#16
Vybhav Jetty, Charles J Glueck, Kevin Lee, Naila Goldenberg, Marloe Prince, Ashwin Kumar, Michael Goldenberg, Ishan Anand, Ping Wang
BACKGROUND: Proprotein convertase subtilisin/kexin type 9 inhibitors, Praluent (alirocumab [ALI]) and Repatha (evolocumab [EVO]) have been approved as adjuncts to the standard-of-care maximal-tolerated dose (MTD) of low-density lipoprotein cholesterol (LDLC)-lowering therapy (LLT), statin therapy, in heterozygous (HeFH) (ALI or EVO) or homozygous (EVO) familial hypercholesterolemia, or clinical atherosclerotic cardiovascular disease (CVD) where LDLC lowering is insufficient (both). Since LDLC lowering has been revolutionized by ALI and EVO, specialty pharmaceutical pricing models will be applied to a mass market...
2017: Vascular Health and Risk Management
https://www.readbyqxmd.com/read/28738813/efficacy-and-safety-of-proprotein-convertase-subtilisin-kexin-type-9-pcsk9-inhibitors-alirocumab-and-evolocumab-a-post-commercialization-study
#17
Joshua Choi, Amir M Khan, Michael Jarmin, Naila Goldenberg, Charles J Glueck, Ping Wang
BACKGROUND: Efficacy-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 69 patients with heterozygous familial hypercholesterolemia (HeFH) and/or cardiovascular disease (CVD) with suboptimal LDL cholesterol (LDLC) lowering on maximal tolerated LDLC therapy, we assessed efficacy and safety of ALI and EVO. METHODS: Post-commercially, we started 29 patients on ALI 75 mg, 18 on ALI 150 mg, and 22 on EVO 140 mg every 2 weeks added to a maximally tolerated LDLC-lowering regimen...
July 24, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28734274/genetic-analysis-of-iranian-patients-with-familial-hypercholesterolemia
#18
Mahdis Ekrami, Maryam Torabi, Soudeh Ghafouri-Fard, Javad Mowla, Bahram Mohammad Soltani, Feyzollah Hashemi-Gorji, Zahra Mohebbi, Mohammad Miryounesi
Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iranian population. Methods: Eighty unrelated Iranian patients with FH entered the study, based on Simon Broome diagnostic criteria...
July 23, 2017: Iranian Biomedical Journal
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
#19
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...
June 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
#20
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
keyword
keyword
10236
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"