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Familial hypercholesterolemia

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https://www.readbyqxmd.com/read/28549500/greater-preclinical-atherosclerosis-in-treated-monogenic-familial-hypercholesterolemia-vs-polygenic-hypercholesterolemia
#1
Mahtab Sharifi, Elizabeth Higginson, Sven Bos, Angela Gallivan, Darren Harvey, Ka Wah Li, Amali Abeysekera, Angela Haddon, Helen Ashby, Kate E Shipman, Jackie A Cooper, Marta Futema, Jeanine E Roeters van Lennep, Eric J G Sijbrands, Mourad Labib, Devaki Nair, Steve E Humphries
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is a common inherited disorder of low density lipoprotein-cholesterol (LDL-C) metabolism. It is associated with higher risk of premature coronary heart disease. Around 60% of patients with a clinical diagnosis of FH do not have a detectable mutation in the genes causing FH and are most likely to have a polygenic cause for their raised LDL-C. We assessed the degree of preclinical atherosclerosis in treated patients with monogenic FH versus polygenic hypercholesterolemia...
May 13, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28534160/micrornas-new-therapeutic-targets-for-familial-hypercholesterolemia
#2
REVIEW
Amir Abbas Momtazi, Maciej Banach, Matteo Pirro, Evan A Stein, Amirhossein Sahebkar
Familial hypercholesterolemia (FH) is the most common inherited form of dyslipidemia and a major cause of premature cardiovascular disease. Management of FH mainly relies on the efficiency of treatments that reduce plasma low-density lipoprotein (LDL) cholesterol (LDL-C) concentrations. MicroRNAs (miRs) have been suggested as emerging regulators of plasma LDL-C concentrations. Notably, there is evidence showing that miRs can regulate the post-transcriptional expression of genes involved in the pathogenesis of FH, including LDLR, APOB, PCSK9, and LDLRAP1...
May 22, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28533932/metabolic-parameters-and-responsiveness-of-isolated-iliac-artery-in-ldlr-mice-role-of-aerobic-exercise-training
#3
Nádia F Garcia, Amanda Cs Sponton, Maria A Delbin, Juliana M Parente, Michele M Castro, Angelina Zanesco, Camila de Moraes
Physical inactivity and dyslipidemia are considered risk factors for cardiovascular diseases. There are few studies evaluating the effects of physical exercise in small-caliber artery in a model that mimics familial hypercholesterolemia. The aim of this study was to examine the effect of exercise training, at moderate intensity, on metabolic parameters and iliac artery responsiveness in LDL(-/-) mice. Sedentary (SD) and trained (TR) mice performed AET (5 days/week, 60 minutes/day at 60-70% of maximum speed) during 8 weeks...
2017: American Journal of Cardiovascular Disease
https://www.readbyqxmd.com/read/28532784/update-on-the-use-of-pcsk9-inhibitors-in-adults-recommendations-from-an-expert-panel-of-the-national-lipid-association
#4
Carl E Orringer, Terry A Jacobson, Joseph J Saseen, Alan S Brown, Antonio M Gotto, Joyce L Ross, James A Underberg
An Expert Panel convened by the National Lipid Association was charged with updating the recommendations on the use of proprotein convertase subtilisin/kexin type 9 (PCSK9) antibody therapy that were provided by the 2015 National Lipid Association Recommendations for the Patient-Centered Management of Dyslipidemia: Part 2. Recent studies have demonstrated the efficacy of these agents in reducing low-density lipoprotein cholesterol and non-high-density lipoprotein cholesterol and have confirmed their excellent safety profile...
May 19, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28531826/how-many-familial-hypercholesterolemia-patients-are-eligible-for-pcsk9-inhibition
#5
Luis Masana, Nuria Plana, Sofia Pérez-Calahorra, Daiana Ibarretxe, Itziar Lamiquiz-Moneo, Juan Pedro-Botet, Manuel Suárez-Tembra, Pedro Valdivielso, Emilio Ortega, Fernando Civeira
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is a high cardiovascular risk condition. Less than 20% of patients achieve the LDL targets. Although PCSK9 inhibitors improve control and reduce cardiovascular events, official recommendations for their use are restrictive. We aim to assess the number of FH patients suitable for PCSK9 inhibition according to the European guidelines. METHODS: A total of 2685 FH patients, with a minimum follow-up of 6 months, included in the Dyslipidemia Registry of the Spanish Arteriosclerosis Society, were sorted according to the intensity of their lipid-lowering therapy (LLT) and LDL cholesterol levels achieved...
May 12, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28529918/advances-in-dyslipidemia-management-for-prevention-of-atherosclerosis-pcsk9-monoclonal-antibody-therapy-and-beyond
#6
REVIEW
Nathan D Wong, Paul D Rosenblit, Robert S Greenfield
In 2003, select families with familial hypercholesterolemia were first identified to have gain-of-function mutations for proprotein convertase subtilisin kexin type 9 (PCSK9) followed, in 2006, by the identification of those with lifelong low levels of LDL-C and lowered atherosclerotic cardiovascular disease (ASCVD) risk who had loss-of-function PCSK9 mutations. These discoveries led to the rapid development of PSCK9-targeted monoclonal antibody (PCSK9 mAb) therapies and, in 2015, 2 'fully-humanized' PCSK9 mAbs (alirocumab and evolocumab) were marketed in the United States, Europe, and other countries...
April 2017: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/28527325/dyslipidemia-management-update
#7
REVIEW
Yingzi Chang, Jacques Robidoux
Association of hypercholesterolemia and atherosclerotic cardiovascular disease (ASCVD) is well established. Reducing low-density lipoprotein-cholesterol (LDL-C) and raising high-density lipoprotein-cholesterol (HDL-C) have been the therapeutic targets to reduce the risk of ASCVD. Cholesterol-lowering medications have been used to provide both primary and secondary prevention of ASCVD for many years by reducing the absorption and reabsorption, promoting excretion, or decreasing the synthesis of cholesterol. Within the past five years, several new classes of cholesterol-lowering drugs have been tested and approved for patients with hypercholesterolemia that are not well controlled by conventional therapy (ezetimibe, bile-acid sequestrants, and statins)...
May 17, 2017: Current Opinion in Pharmacology
https://www.readbyqxmd.com/read/28524730/recent-advances-in-genetic-testing-for-familial-hypercholesterolemia
#8
Michael A Iacocca, Robert A Hegele
Familial hypercholesterolemia (FH) is a common genetic cause of premature coronary heart disease that is widely underdiagnosed and undertreated. To improve the identification of FH and initiate timely and appropriate treatment strategies, genetic testing is becoming increasingly offered worldwide as a central part of diagnosis. Areas covered: Recent advances have been propelled by an improved understanding of the genetic determinants of FH together with substantially reduced costs of appropriate screening strategies...
May 19, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28521186/timely-diagnosis-of-sitosterolemia-by-next-generation-sequencing-in-two-children-with-severe-hypercholesterolemia
#9
Paola Sabrina Buonuomo, Lorenzo Iughetti, Livia Pisciotta, Claudio Rabacchi, Francesco Papadia, Patrizia Bruzzi, Albina Tummolo, Andrea Bartuli, Claudio Cortese, Stefano Bertolini, Sebastiano Calandra
BACKGROUND AND AIMS: Severe hypercholesterolemia associated or not with xanthomas in a child may suggest the diagnosis of homozygous autosomal dominant hypercholesterolemia (ADH), autosomal recessive hypercholesterolemia (ARH) or sitosterolemia, depending on the transmission of hypercholesterolemia in the patient's family. Sitosterolemia is a recessive disorder characterized by high plasma levels of cholesterol and plant sterols due to mutations in the ABCG5 or the ABCG8 gene, leading to a loss of function of the ATP-binding cassette (ABC) heterodimer transporter G5-G8...
May 4, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28514220/case-242-radiation-induced-angiosarcoma
#10
Meredith Disharoon, Kamilia F Kozlowski, Jessica M Kaniowski
History In 2004, this woman received a diagnosis of invasive mammillary carcinoma, tubular variant, strongly positive for estrogen and progesterone receptors. Her lesion was found at screening mammography performed at an outside institution when she was 59 years old. She underwent partial mastectomy, with partial axillary node dissection and sentinel node mapping. A 0.6 × 0.5 cm Nottingham grade 1 infiltrating ductal carcinoma was removed from the right upper outer quadrant, margins were free of tumor, and there was no angiolymphatic invasion...
June 2017: Radiology
https://www.readbyqxmd.com/read/28509890/balancing-low-density-lipoprotein-cholesterol-reduction-and-hepatotoxicity-with-lomitapide-mesylate-and-mipomersen-in-patients-with-homozygous-familial-hypercholesterolemia
#11
Jane I Won, Jun Zhang, Kristen M Tecson, Peter A McCullough
Homozygous familial hypercholesterolemia (HoFH) is an autosomal codominant disorder manifested by high concentrations of total cholesterol and low-density lipoprotein (LDL) cholesterol, and premature cardiovascular disease. Despite conventional lipid-lowering therapy, LDL cholesterol levels remain elevated in patients with HoFH; these patients are considered to be at high risk for cardiovascular events. In 2012-2013, two drugs with novel mechanisms of action were approved by the US Food and Drug Administration for the treatment of HoFH: lomitapide mesylate and mipomersen...
2017: Reviews in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28508023/an-unusual-presentation-of-lcat-deficiency-as-nephrotic-syndrome-with-normal-serum-hdl-c-level
#12
Manish R Balwani, Vijaykumar A Ghodela, Vivek B Kute, Pankaj R Shah, Himanshu V Patel, Dinesh N Gera, Aruna Vanikar, Hargovind L Trivedi
Clinical and biochemical manifestations of lecithin-cholesterol acyltransferase (LCAT) deficiency include an abnormal lipid profile (characterized by hypercholesterolemia with markedly decreased high-density lipoprotein cholesterol [HDL-C] and hypertriglyceridemia), corneal opacities, hematologic abnormalities (normochromic anemia of varying intensity), splenomegaly, variable early coronary artery disease and nephropathy (initially proteinuria followed by progressive deterioration of renal function). We presented a patient with nephrotic syndrome, which renal biopsy revealed classic features of LCAT deficiency...
2017: Journal of Nephropharmacology
https://www.readbyqxmd.com/read/28506805/hdl-abnormalities-in-familial-hypercholesterolemia-focus-on-biological-functions
#13
REVIEW
Shiva Ganjali, Amir Abbas Momtazi, Maciej Banach, Petri T Kovanen, Evan A Stein, Amirhossein Sahebkar
Although a selective strong elevation in the plasma level of low-density lipoprotein (LDL) cholesterol is the hallmark of familial hypercholesterolemia (FH), also other plasma lipoprotein and lipid subspecies are changed in these patients. Several studies in FH patients have pointed to the qualitative abnormalities of high-density lipoprotein (HDL) particles, including their triglyceride and sphingomyelin enrichment, reduced capacity to promote cholesterol efflux from macrophages, impaired anti-inflammatory and anti-oxidant activities, and reduced plasma levels of miRs regulating HDL-dependent cholesterol efflux from macrophage foam cells, typical of atherosclerotic lesions...
May 12, 2017: Progress in Lipid Research
https://www.readbyqxmd.com/read/28506389/proprotein-convertase-subtilisin-kexin-9%C3%A2-inhibition-in-patients-with-familial-hypercholesterolemia-initial-clinical-experience
#14
Annette M H Galema-Boers, Mattie J Lenzen, Eric J Sijbrands, Jeanine E Roeters van Lennep
BACKGROUND: Despite optimal lipid-lowering therapy, a minority of patients with familial hypercholesterolemia (FH) reach low-density lipoprotein cholesterol (LDL-c) target goals. In randomized trials, proprotein convertase subtilisin/kexin 9 (PCSK9) inhibitors led to impressive LDL-c reductions and a favorable safety profile. However, data about the efficacy and safety outside clinical trials are not available yet. OBJECTIVE: The purpose of the study is to describe efficacy and side effects of PCSK9 inhibitors in FH patients in clinical practice...
May 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28506384/managing-the-challenging-homozygous-familial-hypercholesterolemia-patient-academic-insights-and-practical-approaches-for-a-severe-dyslipidemia-a-national-lipid-association-masters-summit
#15
EDITORIAL
G Kees Hovingh, Anne C Goldberg, Patrick M Moriarty
The following article represents material presented and discussed at a symposium hosted by the National Lipid Association hosted entitled "Managing the Challenging Homozygous Familial Hypercholesterolemia Patient-Academic Insights and Practical Approaches for a Severe Dyslipidemia" on November 7, 2015 in Orlando, FL. Presenters included G.K.H., A.C.G, and P.M.M. The diagnosis and genetic causes of extremely high low-density lipoprotein (LDL) cholesterol, which has become known as homozygous familial hypercholesterolemia, were discussed...
May 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28502516/detecting-familial-hypercholesterolemia-the-jack-and-the-beanstalk-principle
#16
Andrew C Martin, Charlotte Allen, Jing Pang, Gerald F Watts
We report the case of an 8-year-old girl who was fortuitously diagnosed with familial hypercholesterolemia (FH) while being investigated for obesity. She had a fasting total cholesterol of 11.8 mmol/L and a low-density lipoprotein cholesterol level of 10.3 mmol/L. Her mother and maternal grandmother both had a history of hypercholesterolemia and had developed extensive xanthelasma palpebrarum from early adult life. Reverse cascade testing of first-degree and second-degree relatives diagnosed a further 6 individuals with FH within the family...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28502511/functional-analysis-of-new-3-untranslated-regions-genetic-variants-in-genes-associated-with-genetic-hypercholesterolemias
#17
Flor María Pérez-Campo, Isabel De Castro-Orós, Alicia Noriega, Montserrat Cofán, Itziar Lamiquiz-Moneo, Ana Cenarro, Emilio Ros, Fernando Civeira, Miguel Pocoví, José Carlos Rodríguez-Rey
BACKGROUND: Familial hypercholesterolemia (FH) is the best-described autosomal dominant genetic hypercholesterolemia (GH). Mutations in candidate genes can explain a high proportion of FH cases, but for many, no causative mutations are detected (designed non-FG-GH), suggesting the existence of additional genetic variants associated with the disease. OBJECTIVE: We aimed to identify new single-nucleotide variants (SNVs) located at the 3' untranslated regions (3'UTRs) of the low-density lipoprotein receptor, low-density lipoprotein receptor-related protein-associated protein 1, ATP-binding cassette sub-family G member 5, and sterol regulatory element-binding protein 2 genes in non-FH-GH individuals and investigated whether the association of these SNVs with non-FH-GH could be explained by changes in the affinity of regulatory microRNAs (miRNA) targeting the sequences modified by the SNVs...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28502510/preliminary-spectrum-of-genetic-variants-in-familial-hypercholesterolemia-in-argentina
#18
Virginia G Bañares, Pablo Corral, Ana Margarida Medeiros, María Beatriz Araujo, Alfredo Lozada, Juan Bustamante, Roxana Cerretini, Graciela López, Mafalda Bourbon, Laura E Schreier
BACKGROUND: Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol and early cardiovascular disease. As cardiovascular disease is a leading cause of mortality in Argentina, early identification of patients with FH is of great public health importance. OBJECTIVE: The aim of our study was to identify families with FH and to approximate to the characterization of the genetic spectrum mutations of FH in Argentina...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28502508/plasma-lipoprotein-a-levels-in-patients-with-homozygous-autosomal-dominant-hypercholesterolemia
#19
Barbara Sjouke, Reyhana Yahya, Michael W T Tanck, Joep C Defesche, Jacqueline de Graaf, Albert Wiegman, John J P Kastelein, Monique T Mulder, G Kees Hovingh, Jeanine E Roeters van Lennep
BACKGROUND: Patients with autosomal dominant hypercholesterolemia (ADH), caused by mutations in either low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin-kexin type 9 (PCSK9) are characterized by high low-density lipoprotein cholesterol levels and in some studies also high lipoprotein(a) (Lp(a)) levels were observed. The question remains whether this effect on Lp(a) levels is gene-dose-dependent in individuals with either 0, 1, or 2 LDLR or APOB mutations...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28502505/lysosomal-acid-lipase-deficiency-a-hidden-disease-among-cohorts-of-familial-hypercholesterolemia
#20
Joana Rita Chora, Ana Catarina Alves, Ana Margarida Medeiros, Cibelle Mariano, Goreti Lobarinhas, António Guerra, Helena Mansilha, Helena Cortez-Pinto, Mafalda Bourbon
BACKGROUND: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder and an unrecognized cause of dyslipidemia. Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause of LALD. OBJECTIVE: The aim of this study was to investigate LALD in individuals with severe dyslipidemia and/or liver steatosis. METHODS: Coding, splice regions, and promoter region of LIPA were sequenced by Sanger sequencing in a cohort of mutation-negative familial hypercholesterolemia (FH) patients (n = 492) and in a population sample comprising individuals with several types of dyslipidemia and/or liver steatosis (n = 258)...
March 2017: Journal of Clinical Lipidology
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