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Familial hypercholesterolemia

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https://www.readbyqxmd.com/read/28225290/screenpro-fh-screening-project-for-familial-hypercholesterolemia-in-central-southern-and-eastern-europe-rationale-and-design
#1
Richard Češka, György Paragh, Željko Reiner, Maciej Banach, Lale Tokgözoğlu, Andrey V Susekov, Katarína Rašlová, Tomáš Freiberger, 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
Familial hypercholesterolemia (FH) is a genetic disorder with well-known genetic transmission and clinical course. Despite great recent progress, FH is still underestimated, under-diagnosed and thus undertreated. Furthermore it represents a significant healthcare challenge as a common risk factor for the premature development of coronary heart disease. The ScreenPro FH Project is an international network project aiming at improving complex care - from timely screening, through diagnosis to up-to-date treatment of familial hypercholesterolemia in Central, Eastern and Southern Europe...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/28225288/screenpro-fh-screening-project-for-familial-hypercholesterolemia-in-central-southern-and-eastern-europe-basic-epidemiology
#2
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/28215923/association-between-the-presence-carotid-artery-plaque-and-cardiovascular-events-in-patients-with-genetic-hypercholesterolemia
#3
Ana M Bea, Fernando Civeira, Estíbaliz Jarauta, Itziar Lamiquiz-Moneo, Sofía Pérez-Calahorra, Victoria Marco-Benedí, Ana Cenarro, Rocío Mateo-Gallego
INTRODUCTION AND OBJECTIVES: The equations used in the general population to calculate cardiovascular risk are not useful in genetic hypercholesterolemia (GH). Carotid plaque detection has proved useful in cardiovascular prediction and risk reclassification but there have been no studies of its usefulness in GH. The aim of this study was to determine the association between the presence of carotid artery plaque and the occurrence of cardiovascular events in patients with GH. METHODS: This study included 1778 persons with GH...
February 16, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28203441/lipoprotein-a-and-inhibitors-of-proprotein-convertase-subtilisin-kexin-type-9
#4
COMMENT
Kazuhiko Kotani, Maciej Banach
Lipoprotein(a) [Lp(a)] has been identified as a risk factor for cardiovascular disease. Lp(a) levels are also high under certain clinical conditions, including familial hypercholesterolemia and high blood low-density lipoprotein (LDL) cholesterol levels. Few effective generic therapies for modulating Lp(a) have been developed. However, new therapies involving inhibitors of proprotein convertase subtilisin/kexin type 9 (PCSK9) using monoclonal antibodies have markedly reduced the blood LDL levels-and the Lp(a) levels as well...
January 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28186442/clinical-determinants-and-treatment-gaps-in-familial-hypercholesterolemia-data-from-a-multi-ethnic-regional-health-service
#5
Barak Zafrir, Ayman Jubran, Gil Lavie, David A Halon, Moshe Y Flugelman, Chen Shapira
Background Familial hypercholesterolemia is characterized by markedly increased low-density lipoprotein cholesterol and risk for premature atherosclerotic cardiovascular disease. Models of care vary and reflect differing health policies and resources. The availability of electronic databases may enable better identification and assessment of familial hypercholesterolemia in the community. Methods A regional healthcare database was utilized to identify patients with a high probability of familial hypercholesterolemia, clinically defined by age-dependent-peak low-density lipoprotein cholesterol cutoffs and exclusion of secondary causes of severe hypercholesterolemia...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28185417/left-main-coronary-angioplasty-of-a-9-year-old-child-with-bioresorable-vascular-scaffold
#6
Hasmukh Ravat, Swati Garekar, Vishal Changela
Familial hypercholesterolemia is an autosomal dominant disorder due to mutations in the low-density lipoprotein receptor gene, characterized by skin and tendon xanthomas, xanthelasmas, and increased risk of premature coronary artery disease. Here, we report a case of 9-year-old girl who presented with angina and dyspnoea on exertion with xanthomas and an elevated serum cholesterol and triglyceride. She had severe stenosis of the left main coronary artery (LMCA) requiring angioplasty and placement of Bioresorbable vascular scaffold (BVS)...
February 10, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/28183844/association-between-posterior-left-atrial-adipose-tissue-mass-and-atrial-fibrillation
#7
Alexander R van Rosendael, Aukelien C Dimitriu-Leen, Philippe J van Rosendael, Melissa Leung, Jeff M Smit, Antti Saraste, Juhani Knuuti, Rob J van der Geest, Britt W H van der Arend, Erik W van Zwet, Arthur J Scholte, Victoria Delgado, Jeroen J Bax
BACKGROUND: Epicardial adipose tissue located close to the atrial wall can change the electric conduction of the left atrium, potentially leading to atrial fibrillation (AF). The aim of this study was to assess whether an increased atrial adipose tissue mass posterior to the left atrium is related to AF independent of demographical and cardiovascular risk factors. METHODS AND RESULTS: Two hundred patients with AF and 200 patients without AF who underwent computed tomographic angiography were included...
February 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/28179607/half-a-century-tales-of-familial-hypercholesterolemia-fh-in-japan
#8
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...
February 8, 2017: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/28169949/molecular-basis-of-familial-hypercholesterolemia
#9
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/28169870/the-role-of-registries-and-genetic-databases-in-familial-hypercholesterolemia
#10
Iris Kindt, Pedro Mata, Joshua W Knowles
PURPOSE OF REVIEW: To review how leveraging familial hypercholesterolemia registries can impact molecular genetic research and precision medicine. RECENT FINDINGS: Familial hypercholesterolemia is both much more common and more phenotypically heterogeneous than previously thought with some evidence for significant genotype to phenotype correlations. Genetic testing for familial hypercholesterolemia is becoming both more widely available and cheaper, spurring conversations about its clinical utility...
February 6, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28169869/low-density-lipoprotein-receptor-mutational-analysis-in-diagnosis-of-familial-hypercholesterolemia
#11
Mafalda Bourbon, Ana C Alves, Eric J Sijbrands
PURPOSE OF REVIEW: To present up to date evidence on the pathogenicity of low-density lipoprotein receptor (LDLR) variants and to propose a strategy that is suitable for implementation in the clinical work-up of familial hypercholesterolaemia. RECENT FINDINGS: More than 1800 variants have been described in the LDLR gene of patients with a clinical diagnosis of familial hypercholesterolaemia; however, less than 15% have functional evidence of pathogenicity. SUMMARY: The spectrum of variants in the LDLR identified in patients with clinical familial hypercholesterolaemia is increasing as novel variants are still being reported...
February 6, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28163543/proprotein-convertase-subtilisin-kexin-type-9-enzyme-inhibitors-an-emerging-new-therapeutic-option-for-the-treatment-of-dyslipidemia
#12
Faizan Mazhar, Nafis Haider
The treatment of hypercholesterolemia entered in a new phase of development with the introduction of proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors in the market. The Food and Drug Administration and European Medicines Agency recently approved the alirocumab and evolocumab, subcutaneously injectable monoclonal antibody every 2 or 4 weeks against PCSK9, for the treatment of hypercholesterolemia in patients with intolerance or inadequate response to statins, especially for the secondary prevention or in the case of familial hypercholesterolemia...
October 2016: Journal of Pharmacology & Pharmacotherapeutics
https://www.readbyqxmd.com/read/28161202/analysis-of-children-and-adolescents-with-familial-hypercholesterolemia
#13
Ilenia Minicocci, Simone Pozzessere, Cristina Prisco, Anna Montali, Alessia di Costanzo, Eliana Martino, Francesco Martino, Marcello Arca
OBJECTIVE: To evaluate the effectiveness of criteria based on child-parent assessment in predicting familial hypercholesterolemia (FH)-causative mutations in unselected children with hypercholesterolemia. STUDY DESIGN: LDLR, APOB, and PCSK9 genes were sequenced in 78 children and adolescents (mean age 8.4 ± 3.7 years) with clinically diagnosed FH. The presence of polygenic hypercholesterolemia was further evaluated by genotyping 6 low-density lipoprotein cholesterol (LDL-C)-raising single-nucleotide polymorphisms...
February 1, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28157722/genotype-guided-diagnosis-in-familial-hypercholesterolemia-clinical-management-and-concerns
#14
Paul N Hopkins, Stacey R Lane
PURPOSE OF REVIEW: In this review, we examine benefits and concerns associated with genetic testing in the clinical management of familial hypercholesterolemia (FH). RECENT FINDINGS: Application of next-generation sequencing and other advances provide improved yield of causal mutations compared with older methods and help disclose underlying pathophysiology in many instances. Concerns regarding clinical application of genetic testing remain. SUMMARY: More widespread application of genetic testing for FH in the USA may be forthcoming...
February 2, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28157721/complexity-of-mechanisms-among-human-proprotein-convertase-subtilisin-kexin-type-9-variants
#15
Jacqueline S Dron, Robert A Hegele
PURPOSE OF REVIEW: There are many reports of human variants in proprotein convertase subtilisin-kexin type 9 (PCSK9) that are either gain-of-function (GOF) or loss-of-function (LOF), with downstream effects on LDL cholesterol and cardiovascular disease (CVD) risk. However, data on particular mechanisms have only been minimally curated. RECENT FINDINGS: GOF variants are individually ultrarare, affect all domains of the protein, act to reduce LDL receptor expression through several mechanisms, are a minor cause of familial hypercholesterolemia, have been reported mainly within families, have variable LDL cholesterol-raising effects, and are associated with increased CVD risk mainly through observational studies in families and small cohorts...
February 2, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28156151/american-association-of-clinical-endocrinologists-and-american-college-of-endocrinology-guidelines-for-management-of-dyslipidemia-and-prevention-of-atherosclerosis
#16
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: Each Recommendation is based on a diligent review of the clinical evidence with transparent incorporation of subjective factors. RESULTS: The Executive Summary of this document contains 87 Recommendations of which 45 are Grade A (51...
February 3, 2017: Endocrine Practice
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/28154305/efficacy-and-safety-of-lomitapide-in-japanese-patients-with-homozygous-familial-hypercholesterolemia
#18
Mariko Harada-Shiba, Katsunori Ikewaki, Atsushi Nohara, Yoshihiko Otsubo, Koji Yanagi, Masayuki Yoshida, Qing Chang, Pamela Foulds
AIM: There is an unmet need in Japan for more optimal lipid-lowering therapy (LLT) for patients with homozygous familial hypercholesterolemia (HoFH) who respond inadequately to available drug therapies and/or apheresis, to achieve goals of low-density lipoprotein cholesterol (LDL-C) reduction by 50% or to <100 mg/dL. METHODS: In this study, Japanese patients with HoFH on stable LLT and diet were treated with lomitapide, initiated at 5 mg/day and escalated to maximum tolerated dose (up to 60 mg/day) over 14 weeks...
February 2, 2017: Journal of Atherosclerosis and Thrombosis
https://www.readbyqxmd.com/read/28146662/child-parent-familial-hypercholesterolemia-screening-in-primary-care
#19
LETTER
Aroon D Hingorani, Marta Futema, Steve Humphries
No abstract text is available yet for this article.
2, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28145427/variability-in-assigning-pathogenicity-to-incidental-findings-insights-from-ldlr-sequence-linked-to-the-electronic-health-record-in-1013-individuals
#20
Maya S Safarova, Eric W Klee, Linnea M Baudhuin, Erin M Winkler, Michelle L Kluge, Suzette J Bielinski, Janet E Olson, Iftikhar J Kullo
Knowledge of variant pathogenicity is key to implementing genomic medicine. We describe variability between expert reviewers in assigning pathogenicity to sequence variants in LDLR, the causal gene in the majority of cases of familial hypercholesterolemia. LDLR was sequenced on the Illumina HiSeq platform (average read depth >200 × ) in 1013 Mayo Biobank participants recruited from 2012 to 2013. Variants with a minor allele frequency (MAF) <5% predicted to be functional or referenced in HGMD (Human Gene Mutation Database) or NCBI-ClinVar databases were reviewed...
February 1, 2017: European Journal of Human Genetics: EJHG
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