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Heterozygous 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/28637586/soluble-lr11-associates-with-aortic-root-calcification-in-asymptomatic-treated-male-patients-with-familial-hypercholesterolemia
#2
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/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
#3
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
#4
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/28592434/effect-of-rosuvastatin-on-carotid-intima-media-thickness-in-children-with-heterozygous-familial-hypercholesterolemia-the-charon-study
#5
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/28576280/-familial-hypercholesterolemia-a-largely-underestimated-cardiovascular-risk
#6
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
#7
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/28555526/statin-intolerance-in-heterozygous-familial-hypercolesterolemia-with-cardiovascular-disease-after-pcsk-9-antibodies-what-else
#8
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
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...
July 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28506389/proprotein-convertase-subtilisin-kexin-9%C3%A2-inhibition-in-patients-with-familial-hypercholesterolemia-initial-clinical-experience
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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