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Genetics familial hypercholesterolemia

Martine Paquette, Sophie Bernard, Isabelle Ruel, David W Blank, Jacques Genest, Alexis Baass
BACKGROUND: Familial hypercholesterolemia (FH) is the most common genetic disorder of lipoprotein metabolism, affecting 1:250 individuals worldwide. This monogenic disease is associated with lifelong elevation in circulating low-density lipoprotein cholesterol and premature cardiovascular disease (CVD). In 2016, the estimated prevalence of diabetes in Canada was 9%. In the FH population, little is known about the prevalence of diabetes and its impact on CVD risk. OBJECTIVE: The objectives of this study were to investigate the prevalence of diabetes among a large cohort of FH patients and to investigate the association between diabetes and CVD risk...
September 17, 2018: Journal of Clinical Lipidology
Olga Maliachova, Stella Stabouli
Familial hypercholesterolemia is a hereditary genetic disorder predisposing in premature atherosclerosis and cardiovascular complications. Early diagnosis as well as effective treatment strategies in affected children are challenges among experts. Universal screening and cascade screening among families with familial hypercholesterolemia are being controversially discussed. Diagnosis of familial hypercholesterolemia in children and adolescents is usually based on clinical phenotype upon LDL-C levels and family history of premature cardiovascular and/or elevated LDL-C...
October 10, 2018: Current Pharmaceutical Design
Rachel L Kember, Liping Hou, Xiao Ji, Lars H Andersen, Arpita Ghorai, Lisa N Estrella, Laura Almasy, Francis J McMahon, Christopher Brown, Maja Bućan
Bipolar disorder (BD) is a mental disorder characterized by alternating periods of depression and mania. Individuals with BD have higher levels of early mortality than the general population, and a substantial proportion of this is due to increased risk for comorbid diseases. To identify the molecular events that underlie BD and related medical comorbidities, we generated imputed whole-genome sequence data using a population-specific reference panel for an extended multigenerational Old Order Amish pedigree (n = 394), segregating BD and related disorders...
October 12, 2018: Translational Psychiatry
Daiana Ibarretxe, Cèlia Rodríguez-Borjabad, Albert Feliu, José Ángel Bilbao, Lluís Masana, Núria Plana
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is underdiagnosed in children. We assessed a combination of two screening methods. The first method was to detect hypercholesteraemic children and then study the parents (Ch-P pathway), and the second one was to study the offspring of FH-affected parents (P-Ch pathway). METHODS: In the Ch-P path, primary care paediatricians were asked to include lipid profiling or, at least, total cholesterol (TC) and then lipid profiling if TC was higher than 5...
October 1, 2018: Atherosclerosis
Omar Yaxmehen Bello-Chavolla, Anuar Kuri-García, Monserratte Ríos-Ríos, Arsenio Vargas-Vázquez, Jorge Eduardo Cortés-Arroyo, Gabriela Tapia-González, Ivette Cruz-Bautista, Carlos Alberto Aguilar-Salinas
Familial combined hyperlipidemia (FCHL) is the most prevalent primary dyslipidemia; however, it frequently remains undiagnosed and its precise definition is a subject of controversy. FCHL is characterized by fluctuations in serum lipid concentrations and may present as mixed hyperlipidemia, isolated hypercholesterolemia, hypertriglyceridemia, or as a normal serum lipid profile in combination with abnormally elevated levels of apolipoprotein B. FCHL is an oligogenic primary lipid disorder, which can occur due to the interaction of several contributing variants and mutations along with environmental triggers...
2018: Revista de Investigación Clínica; Organo del Hospital de Enfermedades de la Nutrición
Matilda Florentin, Michael S Kostapanos, Moses S Elisaf, Evangelos N Liberopoulos
BACKGROUND: Familial hypercholesterolemia (FH) is the most common metabolic genetic disorder, with around 13 million people worldwide having the disease. However, FH is globally underdiagnosed and undertreated, while the vast majority of those treated do not achieve treatment goals. OBJECTIVE: This review aims to clarify how to identify patients with FH. METHODS: We performed a comprehensive search of the literature to identify available data...
October 8, 2018: Current Pharmaceutical Design
Thomas Gossios, Ioanna Zografou, Veta Simoulidou, Athina Pirpassopoulou, Konstantinos Christou, Asterios Karagiannis
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal-dominant genetic disease, associated with premature atherosclerotic cardiovascular disease (CVD), especially in its homozygous type (HoFH). OBJECTIVE: The aim of this review is to discuss the safety and efficacy of combination treatments (procedures and drugs) for HoFH. RESULTS: Historically, liver transplantation was used first; however, it is currently considered only as a last resort for some patients...
October 8, 2018: Current Pharmaceutical Design
Jesús M Martín-Campos, Núria Plana, Rosaura Figueras, Daiana Ibarretxe, Assumpta Caixàs, Eduardo Esteve, Antonio Pérez, Marta Bueno, Marta Mauri, Rosa Roig, Susana Martínez, Xavier Pintó, Luís Masana, Josep Julve, Francisco Blanco-Vaca
BACKGROUND: Autosomal dominant hypercholesterolemia (ADH) is associated with mutations in the low-density lipoprotein (LDL) receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9) genes, and it is estimated to be greatly underdiagnosed. The most cost-effective strategy for increasing ADH diagnosis is a cascade screening from mutation-positive probands. OBJECTIVE: The objective of this study was to evaluate the results from 2008 to 2016 of ADH genetic analysis performed in our clinical laboratory, serving most lipid units of Catalonia, a Spanish region with approximately 7...
September 7, 2018: Journal of Clinical Lipidology
Juan M Suárez-Rivero, Mario de la Mata, Ana Delgado Pavón, Marina Villanueva-Paz, Suleva Povea-Cabello, David Cotán, Mónica Álvarez-Córdoba, Irene Villalón-García, Patricia Ybot-González, Joaquín J Salas, Ovidio Muñiz, Mario D Cordero, José A Sánchez-Alcázar
Familial Hypercholesterolemia (FH) is an autosomal co-dominant genetic disorder characterized by elevated low-density lipoprotein (LDL) cholesterol levels and increased risk for premature cardiovascular disease. Here, we examined FH pathophysiology in skin fibroblasts derived from FH patients harboring heterozygous mutations in the LDL-receptor. Fibroblasts from FH patients showed a reduced LDL-uptake associated with increased intracellular cholesterol levels and coenzyme Q10 (CoQ10 ) deficiency, suggesting dysregulation of the mevalonate pathway...
October 5, 2018: Biochimica et biophysica acta. Molecular basis of disease
P Chemaly, O Nallet, N Delarche, C Legagneur, R Boulestreau, I Reibel, C Palette, A Grenier, H Courtade, G Beaune, L Belle, J-L Georges
BACKGROUND: Familial hypercholesterolemia (FH) is a frequent genetic disorder that leads to premature atherosclerosis and coronary artery disease. However, knowledge of FH by cardiologists is weak, and FH remains underdiagnosed in France. FH should be suspected when low-density lipoprotein cholesterol (LDLc) levels exceed 1.9g/L (4.9mmol/L) without lipid lowering therapy. PURPOSE: This multicenter retro- and prospective observational study aimed at estimating the prevalence of high LDLc levels in patients admitted in coronary care units, and the impact for the personal and familial follow-up for lipid status...
October 2, 2018: Annales de Cardiologie et D'angéiologie
Khalid Al-Rasadi, Khalid F Alhabib, Faisal Al-Allaf, Khalid Al-Waili, Ibrahim Al-Zakwani, Ahmad AlSarraf, Wael Almahmeed, Nasreen AlSayed, Mohammad Alghamdi, Mohammed A Batais, Turky H Almigbal, Fahad Alnouri, Abdulhalim Kinsara, Ashraf Hammouda, Zuhier Awan, Heba Kary, Omer A Elamin, Fahad Zadjali, Mohammed Al-Jarallah, Abdullah Shehab, Hani Sabbour, Haitham Amin, Hani Altaradi
AIM: To determine the prevalence, genetic characteristics, current management and outcomes of familial hypercholesterolaemia (FH) in the Gulf region. METHOD: Adult (18-70 years) FH patients were recruited from 9 hospitals and centres across 5 Arabian Gulf countries. The study was divided into 4 phases and included patients from 3 different categories. In Phase 1, suspected FH patients (category 1) were collected according to the lipid profile and clinical data obtained through hospital record systems...
October 5, 2018: Current Vascular Pharmacology
D Sun, Y-X Cao, X-D You, B-Y Zhou, S Li, Y-L Guo, Y Zhang, N-Q Wu, C-G Zhu, Y Gao, Q-T Dong, G Liu, Q Dong, J-J Li
PURPOSE: Though type 2 diabetes mellitus (T2DM) is an important and independent risk factor for coronary artery disease (CAD) in the general population, the impact of T2DM on CAD in patients with familial hypercholesterolemia (FH) is less understood. Thus, the current study aimed to examine the features of FH patients with T2DM and explore the effects of T2DM on CAD in FH. METHODS: A total of 289 clinical heterozygous FH (HeFH) patients diagnosed with Dutch Lipid Clinic Criteria were consecutively recruited and divided into a T2DM group (n = 58) and non-T2DM group (n = 231)...
October 1, 2018: Journal of Endocrinological Investigation
Jiayin Yang, Lai-Yung Wong, Xiao-Yu Tian, Rui Wei, Wing-Hon Lai, Ka-Wing Au, Zhiwei Luo, Carl Ward, Wai-In Ho, David P Ibañez, Hao Liu, Xichen Bao, Baoming Qin, Yu Huang, Miguel A Esteban, Hung-Fat Tse
Familial hypercholesterolemia (FH) is mostly caused by low-density lipoprotein receptor (LDLR) mutations and results in an increased risk of early-onset cardiovascular disease due to marked elevation of LDL cholesterol (LDL-C) in blood. Statins are the first line of lipid-lowering drugs for treating FH and other types of hypercholesterolemia, but new approaches are emerging, in particular PCSK9 antibodies, which are now being tested in clinical trials. To explore novel therapeutic approaches for FH, either new drugs or new formulations, we need appropriate in vivo models...
September 15, 2018: Journal of Visualized Experiments: JoVE
Maris Alver, Marili Palover, Aet Saar, Kristi Läll, Seyedeh Maryam Zekavat, Neeme Tõnisson, Liis Leitsalu, Anu Reigo, Tiit Nikopensius, Tiia Ainla, Mart Kals, Reedik Mägi, Stacey B Gabriel, Jaan Eha, Eric S Lander, Alar Irs, Anthony Philippakis, Toomas Marandi, Pradeep Natarajan, Andres Metspalu, Sekar Kathiresan, Tõnu Esko
PURPOSE: Large-scale, population-based biobanks integrating health records and genomic profiles may provide a platform to identify individuals with disease-predisposing genetic variants. Here, we recall probands carrying familial hypercholesterolemia (FH)-associated variants, perform cascade screening of family members, and describe health outcomes affected by such a strategy. METHODS: The Estonian Biobank of Estonian Genome Center, University of Tartu, comprises 52,274 individuals...
October 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Aleksandr Shek, Rano Alieva, Ravshanbek Kurbanov, Shavkat Hoshimov, Ulugbek Nizamov, Guzal Abdullaeva, Aleksandr Nagay
BACKGROUND AND AIMS: We aimed to assess the disease burden and to study the molecular genetic characteristics of heterozygous familial hypercholesterolemia (HeFH) patients within the Uzbek population to develop a program of early disease detection and effective treatment measures. METHODS: 201 patients were included in the study, of whom 57 with chronic stable coronary artery disease (SCAD) and HeFH, and 144 with SCAD without HeFH belonging to the control group, and divided into two subgroups: A, statin free before the study (n = 63) and B (n = 81), who took statin outpatiently...
October 2018: Atherosclerosis
Roopa Mehta, Alexandro J Martagon, Gabriela A Galan Ramirez, Gustavo Gonzalez Retana, Magdalena Martinez-Beltran, Arsenio Vargas Vazquez, Alejandra Vazquez-Cardenas, Carlos A Aguilar-Salinas
BACKGROUND AND AIMS: In Mexico, familial hypercholesterolemia (FH) is, as in other parts of the world, largely underdiagnosed and undertreated, and represents a significant burden to the healthcare system. However, there is not enough information to design public policies against the disease. Genetic studies have shown that LDLR mutations are the most common cause, but in a large percentage of the cases, no mutation has been identified in the FH genes. METHODS: In accordance with the procedures of the European Atherosclerosis Society (EAS) FH registries network, the Mexican FH registry (www...
October 2018: Atherosclerosis
Frederick J Raal, G Kees Hovingh, Alberico L Catapano
Familial hypercholesterolemia (FH) is a genetic disorder resulting from mutations in genes encoding proteins involved in the metabolism of low density lipoproteins (LDL) and characterized by premature cardiovascular disease due to the exposure to high levels of LDL-cholesterol (LDL-C) from birth. Thus, the early identification of FH subjects, followed by appropriate treatment is essential to prevent or at least delay the onset of cardiovascular events. However, FH is largely underdiagnosed; in addition, FH patients are frequently not adequately treated, despite the availability of several pharmacological therapies to significantly reduce LDL-C levels...
October 2018: Atherosclerosis
Ana Cristina Souto, Marcio H Miname, Julia Fukushima, Cinthia E Jannes, Jose E Krieger, Martin Hagger, Alexandre C Pereira, Raul D Santos
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is a genetic disorder associated with high risk of early major cardiovascular events (MACE) that can impact the health related quality of life (HRQoL), however, this association is unclear. This study evaluated HRQoL in index cases (IC) and first-degree relatives (FDR) of individuals at high risk of FH undergoing genetic cascade screening. METHODS: Data collection was performed before awareness of molecular diagnosis results...
October 2018: Atherosclerosis
Ana Catarina Alves, Asier Benito-Vicente, Ana Margarida Medeiros, Kaajal Reeves, Cesar Martin, Mafalda Bourbon
BACKGROUND AMD AIMS: APOB mutations are a rare cause of familial hypercholesterolaemia (FH) and, until recently, routine genetic diagnosis only included the study of two small APOB fragments. In previous years, 5 novel functional mutations have been described in APOB fragments not routinely studied, our group having functionally characterized 2 of them. The main aim of this work was to identify and characterize novel alterations in APOB to assess the genetic cause of hypercholesterolemia in patients with a clinical diagnosis of FH...
October 2018: Atherosclerosis
Yun-Chieh Hsiung, Po-Chih Lin, Chih-Shan Chen, Yi-Ching Tung, Wei-Shiung Yang, Pei-Lung Chen, Ta-Chen Su
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an autosomal dominant disorder with paramount health impacts. However, less than 1% FH patients in Taiwan were formally diagnosed, partly due to the lack of reliable cost-effective genetic testing. We aimed at using a next-generation sequencing (NGS) platform as the clinical genetic testing method for FH. METHODS: We designed probes to capture the whole LDLR gene and all coding sequences of APOB and PCSK9, and then sequenced with Illumina MiSeq platform (2 × 300 bps)...
October 2018: Atherosclerosis
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