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Heterozygous familial hypercholesterolemia

Masoud Tajamolian, Parisa Kolahdouz, Parvaneh Nikpour, Seyed Khalil Forouzannia, Mohammad Hasan Sheikhha, Ehsan Farashahi Yazd
Background: Familial hypercholesterolemia (FH) is a disorder that is inherited by autosomal dominant pattern. The main cause of FH disease is the occurrence of mutations in low-density lipoprotein receptor (LDLR) gene sequence, as well as apolipoprotein B and proprotein convertase subtilisin/kexin type 9 genes, located in the next ranks, respectively. Materials and Methods: Forty-five unrelated Iranian patients with FH were screened using a high-resolution melting (HRM) method for exon 9 along with intron/exon boundaries of LDLR gene...
2018: Advanced Biomedical Research
Charles J Glueck, Alan Brown, Anne C Goldberg, James M McKenney, Louis Kantaros, John Stewart, Joseph Elassal, Andrew Koren
BACKGROUND: The alirocumab expanded use program provided open-label access to alirocumab before its commercial availability to patients with severe hypercholesterolemia not controlled with maximally tolerated doses of standard-of-care lipid-lowering therapy. OBJECTIVE: To describe the safety and lipid-lowering efficacy of alirocumab in high-risk patients who were likely to be early users of proprotein convertase subtilisin/kexin type 9 inhibitors after approval...
February 7, 2018: Journal of Clinical Lipidology
Patricia Rubio-Marín, Alfredo Michán-Doña, Juan Maraver-Delgado, Raquel Arroyo-Olivares, Rosalía Barrado Varea, Leopoldo Pérez de Isla, Pedro Mata
INTRODUCTION AND OBJECTIVE: Early detection of heterozygous familial hypercholesterolemia (HFH) is needed to prevent premature cardiovascular events. Our aim isto describe the course of an HFH screening detection day in the Northern Cadiz Health Area in Spain and to analyze the data recorded. SUBJECTS AND METHODS: Descriptive study of an FH cascade screening program. Index cases (ICs) and their 1st and 2nd grade relatives were appointed during a weekend by the FH Foundation...
March 6, 2018: Endocrinología, Diabetes y Nutrición
Barbara S Wiggins, Jeffrey Senfield, Helina Kassahun, Armando Lira, Ransi Somaratne
PURPOSE OF REVIEW: To review the efficacy, safety, pharmacology, and pharmacokinetics of evolocumab, a proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor. RECENT FINDINGS: PCSK9 inhibitors are a class of lipid-lowering agents that significantly reduce low-density lipoprotein cholesterol (LDL-C) levels in patients with atherosclerotic cardiovascular disease and hyperlipidemia. Evolocumab is a monoclonal antibody that inhibits PCSK9 and has been evaluated in phase II and III studies as monotherapy, in combination with statins and other lipid-lowering therapies, in patients who are statin intolerant, and in patients with heterozygous and homozygous familial hypercholesterolemia...
March 6, 2018: Current Atherosclerosis Reports
Günter Klaus, Christina Taylan, Rainer Büscher, Claus Peter Schmitt, Lars Pape, Jun Oh, Joenna Driemeyer, Matthias Galiano, Jens König, Carsten Schürfeld, Ralf Spitthöver, Juergen R Schaefer, Lutz T Weber, Andreas Heibges, Reinhard Klingel
BACKGROUND: Familial hypercholesterolemia (FH) causes premature cardiovascular disease (CVD). Lipoprotein apheresis (LA) is recommended as first-line lipid-lowering treatment (LLT) for homozygous (ho) FH. METHODS: Efficacy of multimodal LLT including lifestyle counseling, drug treatment, and LA was analyzed in 17 pediatric hoFH or compound heterozygous (c-het) FH patients, who commenced chronic LA in Germany before the age of 18. RESULTS: At time of diagnosis, mean low-density lipoprotein cholesterol (LDL-C) concentration was 19...
March 3, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Marcello Arca, David Ansell, Maurizio Averna, Francesca Fanelli, Katherine Gorcyca, Şerban R Iorga, Aldo P Maggioni, Georges Paizis, Radovan Tomic, Alberico L Catapano
BACKGROUND AND AIMS: Statin utilization and lipid goal achievement were estimated in a large sample of Italian patients at high/very-high cardiovascular (CV) risk. METHODS: Patients aged ≥18 years with a valid low-density lipoprotein cholesterol (LDL-C) measurement in 2015 were selected from the IMS Health Real World Data database; non-high-density lipoprotein cholesterol (non-HDL-C) was assessed in those with available total cholesterol measurements. Index dates were defined as the last valid lipid measurement in 2015...
February 17, 2018: Atherosclerosis
Vladimír Bláha, Milan Bláha, Miriam Lánská, Eduard Havel, Pavel Vyroubal, Zdeněk Zadák, Pavel Žák
PCSK9-inhibitors belong to the new class of hypolipidemic agents. They enhance catabolism of low density lipoprotein cholesterol (LDL-C) through inhibiting activity of proprotein convertase subtilisin/kexin type 9 (PCSK9). They are monoclonal antibodies (alirocumab, evolocumab etc). Under clinical development are also other types of PCSK9-inhibitors which act at a subcellular level. The treatment with PCSK9-inhibitors can be beneficially combined with lipoprotein apheresis (LA). If such treatment using PCSK9-inhibitors is possible with regard to an individual patients genotype, the combination of LA and PCSK9-inhibitors leads to slowing the space of LDL-C increase between individual procedures of apheresis and enables attaining of the lowest possible values of LDL-cholesterolemia for the longest possible period of time...
2018: Vnitr̆ní Lékar̆ství
Martina Vaclová, Tomáš Freiberger, Lucie Schwarzová, Lukáš Tichý, Michal Vrablík, Richard Češka
The MedPed project (Make Early Diagnosis to Prevent Early Deaths) aiming at screening, diagnosis and treatment of patients with familial hypercholesterolemia (FH) was initiated more than 19 years ago. More than 60 cooperating centers and a large number of health care professionals have been involved. Till November 15, 2017 the nationwide database has comprised 7 567 entries of individual FH patients, 439 of these being children up to 19 years of age. Given the recently corrected estimated population frequency of FH of 1 to 250 this number represents 18...
2018: Vnitr̆ní Lékar̆ství
Peter A McCullough, Christie M Ballantyne, Santosh K Sanganalmath, Gisle Langslet, Seth J Baum, Prediman K Shah, Andrew Koren, Jonas Mandel, Michael H Davidson
Patients with previous atherosclerotic cardiovascular disease (ASCVD) and/or heterozygous familial hypercholesterolemia (HeFH) are at high risk of future cardiovascular events. Despite maximally tolerated doses of statins, many patients still have elevated low-density lipoprotein cholesterol (LDL-C) levels. We evaluated the efficacy and safety of alirocumab in patients with ASCVD and/or HeFH on a maximally tolerated dose of statin (rosuvastatin 20 or 40 mg, atorvastatin 40 or 80 mg, or simvastatin 80 mg, or lower doses with an investigator-approved reason) ± other lipid-lowering therapies from 5 placebo-controlled phase 3 trials (52 to 78 weeks)...
February 2, 2018: American Journal of Cardiology
Amy C Burke, Dawn E Telford, Brian G Sutherland, Jane Y Edwards, Cynthia G Sawyez, P Hugh R Barrett, Roger S Newton, J Geoffrey Pickering, Murray W Huff
OBJECTIVE: Bempedoic acid (BemA; ETC-1002) is a novel drug that targets hepatic ATP-citrate lyase to reduce cholesterol biosynthesis. In phase 2 studies, BemA lowers elevated low-density lipoprotein cholesterol (LDL-C) in hypercholesterolemic patients. In the present study, we tested the ability of BemA to decrease plasma cholesterol and LDL-C and attenuate atherosclerosis in a large animal model of familial hypercholesterolemia. APPROACH AND RESULTS: Gene targeting has been used to generate Yucatan miniature pigs heterozygous ( LDLR +/- ) or homozygous ( LDLR -/- ) for LDL receptor deficiency (ExeGen)...
February 15, 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
Tatiana L Kaestner, Vivian F Bento, Daiane C Pazin, Cristina P Baena, Marcia Olandoski, Gabriela A Abreu, Maria Cristina C Kuschnir, Katia V Bloch, José R Faria-Neto
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder with an estimated worldwide prevalence ranging from 1 in 200 individuals to 1 in 500 individuals in its heterozygous form. Individuals with FH exhibit high low-density lipoprotein cholesterol (LDLc) levels from birth, which leads to premature cardiovascular events. In Brazil, like in most countries around the world, FH is considered a public health problem but remains underdiagnosed and undertreated...
December 28, 2017: Journal of Clinical Lipidology
Mariko Harada-Shiba, Takao Ohta, Akira Ohtake, Masatsune Ogura, Kazushige Dobashi, Atsushi Nohara, Shizuya Yamashita, Koutaro Yokote
This paper describes consensus statement by Joint Working Group by Japan Pediatric Society and Japan Atherosclerosis Society for Making Guidance of Pediatric Familial Hypercholesterolemia (FH) in order to improve prognosis of FH.FH is a common genetic disease caused by mutations in genes related to low density lipoprotein (LDL) receptor pathway. Because patients with FH have high LDL cholesterol (LDL-C) levels from the birth, atherosclerosis begins and develops during childhood which determines the prognosis...
February 6, 2018: Journal of Atherosclerosis and Thrombosis
Jean-Philippe Drouin-Chartier, André J Tremblay, Jean Bergeron, Benoît Lamarche, Patrick Couture
BACKGROUND AND AIMS: Maximizing the acute reduction of LDL-cholesterol (C) and lipoprotein (a) (Lp(a)) concentrations in patients with homozygous familial hypercholesterolemia (HoFH) is the main goal of lipoprotein apheresis (LA). The objective of this study was to examine how the pre-LA serum TG concentrations influence the efficacy of LA to acutely reduce LDL-C and Lp(a) concentrations in HoFH patients. METHODS: Data from 1761 LA treatments of HoFH patients (n = 10) and compound heterozygous patients (n = 5) collected between 2008 and 2016 were analyzed...
January 12, 2018: Atherosclerosis
Knut Tore Lappegård, Christian Abendstein Kjellmo, Stefan Ljunggren, Karin Cederbrant, Maritha Marcusson-Ståhl, Monica Mathisen, Helen Karlsson, Anders Hovland
Lipoprotein apheresis and proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors are last therapeutic resorts in patients with familial hypercholesterolemia (FH). We explored changes in lipoprotein subclasses and high-density lipoprotein (HDL) function when changing treatment from lipoprotein apheresis to PCSK9 inhibition. We measured the levels of low-density lipoprotein (LDL) and HDL particle subclasses, serum amyloid A1 (SAA1), paraoxonase-1 (PON1) activity and cholesterol efflux capacity (CEC) in three heterozygous FH patients...
January 4, 2018: Transfusion and Apheresis Science
Annette M Galema-Boers, Mattie J Lenzen, Sophie R Engelkes, Eric J Sijbrands, Jeanine E Roeters van Lennep
BACKGROUND: Despite lipid-lowering therapy (LLT), some patients with familial hypercholesterolemia (FH) still develop cardiovascular events. Data about the quantification and factors contributing to this residual risk are lacking. OBJECTIVE: This study assessed how many patients with FH developed a cardiovascular event despite LLT and which factors contribute to this risk. METHODS: We performed a time-dependent analysis in a cohort of consecutive heterozygous FH patients using stable LLT to evaluate first and subsequent cardiovascular events...
January 2, 2018: Journal of Clinical Lipidology
Merel L Hartgers, Joep C Defesche, Gisle Langslet, Paul N Hopkins, John J P Kastelein, Marie T Baccara-Dinet, Werner Seiz, Sara Hamon, Poulabi Banerjee, Claudia Stefanutti
BACKGROUND: Mutations in the genes for the low-density lipoprotein receptor (LDLR), apolipoprotein B, and proprotein convertase subtilisin/kexin type 9 have been reported to cause heterozygous and homozygous familial hypercholesterolemia (FH). OBJECTIVE: The objective is to examine the influence of double heterozygous, compound heterozygous, or homozygous mutations underlying FH on the efficacy of alirocumab. METHODS: Patients from 6 alirocumab trials with elevated low-density lipoprotein cholesterol (LDL-C) and FH diagnosis were sequenced for mutations in the LDLR, apolipoprotein B, proprotein convertase subtilisin/kexin type 9, LDLR adaptor protein 1 (LDLRAP1), and signal-transducing adaptor protein 1 genes...
December 28, 2017: Journal of Clinical Lipidology
Francesco Sbrana, Simone Ferranti, Federico Bigazzi, Maddalena Toma, Beatrice Dal Pino, Roberta Luciani, Mascia Pianelli, Francesco Menichetti, Tiziana Sampietro
No abstract text is available yet for this article.
January 1, 2018: European Journal of Preventive Cardiology
Aurora Gonzalez-Estrada, Jose Carlos Alarcon-Garcia, Paula Garcia-Ocaña, Ana Camacho-Carrasco, Maria Del Carmen Alarcon-Garcelan, Fatima Espinosa-Torre, Veronica Alfaro-Lara, Ovidio Muñiz-Grijalvo
No abstract text is available yet for this article.
August 2017: Atherosclerosis
Sofia Perez-Calahorra, Nuria Plana, Rosa Ma Sanchez-Hernandez, Victoria Marco-Benedi, Angel Brea, Manuel Suarez, Marta Mauri, Alexander Villa, Esperanza Martorell, Carlos Lahoz
No abstract text is available yet for this article.
August 2017: Atherosclerosis
Atushi Nohara, Masa-Aki Kawashiri, Yoshikatsu Eto, Miwa Fujisaki, Hayato Tada, Mie Yoshida, Mika Mori, Chiaki Nakanishi, Kunimasa Yagi, Akihiro Inazu, Masakazu Yamagishi, Hiroshi Mabuchi
No abstract text is available yet for this article.
August 2017: Atherosclerosis
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