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Heterozygous familial hypercholesterolemia

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https://www.readbyqxmd.com/read/28521186/timely-diagnosis-of-sitosterolemia-by-next-generation-sequencing-in-two-children-with-severe-hypercholesterolemia
#1
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/28506389/proprotein-convertase-subtilisin-kexin-9%C3%A2-inhibition-in-patients-with-familial-hypercholesterolemia-initial-clinical-experience
#2
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/28502508/plasma-lipoprotein-a-levels-in-patients-with-homozygous-autosomal-dominant-hypercholesterolemia
#3
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/28502498/mature-proprotein-convertase-subtilisin-kexin-type-9-coronary-atheroma-burden-and-vessel-remodeling-in-heterozygous-familial-hypercholesterolemia
#4
Yu Kataoka, Mariko Harada-Shiba, Kazuhiro Nakao, Takahiro Nakashima, Shoji Kawakami, Masashi Fujino, Tomoaki Kanaya, Toshiyuki Nagai, Yoshio Tahara, Yasuhide Asaumi, Mika Hori, Masatsune Ogura, Yoichi Goto, Teruo Noguchi, Satoshi Yasuda
BACKGROUND: Proprotein convertase subtilisin/kexin type 9 (PCSK9), an important contributor to low-density lipoprotein metabolism in heterozygous familial hypercholesterolemia (HeFH), exhibits direct proatherogenic effects. PCSK9 circulates as mature and furin-cleaved forms, which differ in its biological activity. However, it remains to be elucidated whether each PCSK9 subtype has different atherogenic properties. OBJECTIVE: To investigate the association of each PCSK9 subtype with coronary atherosclerosis in HeFH...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28499609/achilles-tendon-xanthomas-are-associated-with-the-presence-and-burden-of-subclinical-coronary-atherosclerosis-in-heterozygous-familial-hypercholesterolemia-a-pilot-study
#5
Leonardo C Mangili, Marcio H Miname, Pamela R S Silva, Marcio S Bittencourt, Viviane Z Rocha, Otavio C Mangili, Wilson Salgado Filho, Ana P Chacra, Cinthia E Jannes, Alexandre C Pereira, Raul D Santos
BACKGROUND AND AIMS: Achilles tendon xanthomas (ATX) are a sign of long-term exposure to high blood cholesterol in familial hypercholesterolemia (FH) patients, which have been associated with cardiovascular disease. We evaluated the ATX association with the presence and extent of subclinical coronary atherosclerosis in heterozygous FH patients. METHODS: 102 FH patients diagnosed by US-MEDPED criteria (67% with genetically proven FH), with median LDL-C 279 mg/dL (interquartile range: 240; 313), asymptomatic for cardiovascular disease, underwent computed tomography angiography and coronary artery calcium (CAC) quantification...
April 30, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28456681/early-coronary-calcifications-are-related-to-cholesterol-burden-in-heterozygous-familial-hypercholesterolemia
#6
Antonio Gallo, Philippe Giral, Alain Carrié, Valérie Carreau, Sophie Béliard, Randa Bittar, Marianna Maranghi, Marcello Arca, Philippe Cluzel, Alban Redheuil, Eric Bruckert, David Rosenbaum
BACKGROUND: The identification of high-risk patients with heterozygous familial hypercholesterolemia (HeFH) that may benefit from early treatment is challenging. Coronary Artery Calcification (CAC) score accounts for coronary atherosclerotic burden. It has proven its accuracy in cardiovascular risk assessment in the general population but data in HeFH are lacking. OBJECTIVE: The aim of our study was to assess CAC prevalence and its relationship with lifelong cholesterol exposure, calculated by total cholesterol burden (TCB) in patients with HeFH...
April 4, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28449836/aortic-calcification-progression-in-heterozygote-familial-hypercholesterolemia
#7
Manal Al Kindi, Alexandre M Bélanger, Karl Sayegh, Soumia Senouci, Sumayah Aljenedil, Lojan Sivakumaran, Isabelle Ruel, Khalid Al Rasadi, Khalid Al Waili, Zuhier Awan, David Valenti, Jacques Genest
BACKGROUND: Patients with homozygous and heterozygous familial hypercholesterolemia (HeFH) develop severe aortic calcifications in an age- and gene dosage-dependent manner. The purpose of this study was to determine the rate of progression of aortic calcification in patients with HeFH. METHODS: We performed thoracoabdominal computed tomography scans and quantified aortic calcium (AoCa) score in 16 HeFH patients, all with the null low-density lipoprotein (LDL) receptor DEL15Kb mutation...
May 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28446516/access-to-non-statin-lipid-lowering-therapies-in-patients-at-high-risk-of-atherosclerotic-cardiovascular-disease
#8
Joshua W Knowles, William B Howard, Lala Karayan, Seth J Baum, Katherine A Wilemon, Christie M Ballantyne, Kelly D Myers
High-intensity statins are recommended for all patients with familial hypercholesterolemia (FH) and non-statin lipid lowering therapies (LLTs) are indicated when there is an inadequate response to statins(1, 2) In the pre-PCSK9 inhibitor (PCSK9i) era only about 40% of FH patients achieved an LDL-C level <100.(3) Partly based on the need for additional therapeutic options in high-risk FH patients, PCSK9 inhibitors were approved for treatment of heterozygous and homozygous FH in 2015. Nevertheless, emerging anecdotal data suggest that access to non-statin LLTs has been a challenge for FH patients though this has not been systematically evaluated...
April 26, 2017: Circulation
https://www.readbyqxmd.com/read/28444187/modelling-the-cost-effectiveness-pcsk9-inhibitors-vs-ezetimibe-through-ldl-c-reductions-in-a-norwegian-setting
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
Fernando Civeira, Nuria Plana
No abstract text is available yet for this article.
March 8, 2017: Revista Española de Cardiología
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