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Genetics familial hypercholesterolemia

Samuel S Gidding
PURPOSE OF REVIEW: Familial hypercholesterolemia is a genetic condition where low-density lipoprotein (LDL) receptor defects cause severe elevations of LDL cholesterol. As significant LDL-lowering effects are needed, medication is considered the cornerstone of therapy, and dietary therapy has received less emphasis. This review will re-visit older studies of diet intervention and new insights from genetic and mechanistic studies to determine the value of diet management for familial hypercholesterolemia patients...
December 13, 2018: Current Opinion in Clinical Nutrition and Metabolic Care
Katherine E Mues, Alina N Bogdanov, Keri L Monda, Larisa Yedigarova, Alexander Liede, Lee Kallenbach
Background: Familial hypercholesterolemia (FH) is a condition characterized by high cholesterol levels and increased risk for coronary heart disease (CHD) that often goes undiagnosed. The Dutch Lipid Network Criteria (DLNC) are used to identify FH in clinical settings via physical examination, personal and family history of CHD, in addition to the presence of deleterious mutations of the LDLR , ApoB , and PCSK9 genes. Agreement between clinical and genetic diagnosis of FH varies. While an ICD diagnosis code was not available for coding FH until 2016, Systematized Nomenclature of Medicine (SNOMED) clinical concept codes, including genetic diagnoses, for FH have been utilized in electronic health records (EHRs)...
2018: Clinical Epidemiology
Ye-Xuan Cao, Na-Qiong Wu, Di Sun, Hui-Hui Liu, Jing-Lu Jin, Sha Li, Yuan-Lin Guo, Cheng-Gang Zhu, Ying Gao, Qiu-Ting Dong, Geng Liu, Qian Dong, Jian-Jun Li
BACKGROUND: Patients with monogenic familial hypercholesterolemia (FH) have high risk for coronary artery disease (CAD). A recent FH Expert Panel suggested that FH was underdiagnosed and undertreated which needs early diagnosis. Moreover, the proportion of DNA-confirmed FH patients hospitalized with very early-onset (≤ 35 years) CAD remains uncertain. METHODS: One hundred and five patients with age ≤ 35 years and LDL-C ≥ 3.4 mmol/L were tested for 9 genes (LDLR, APOB, PCSK9, APOE, STAP1, LIPA, LDLRAP1, ABCG5/8)...
December 10, 2018: Journal of Translational Medicine
Laurens F Reeskamp, John J P Kastelein, Patrick M Moriarty, P Barton Duell, Alberico L Catapano, Raul D Santos, Christie M Ballantyne
BACKGROUND AND AIMS: Heterozygous familial hypercholesterolemia (HeFH) is a common genetic disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) and increased cardiovascular disease risk. Despite multiple LDL-C-lowering therapies, many HeFH patients do not reach LDL-C targets. Mipomersen, an antisense oligonucleotide against apolipoprotein B (apoB), might further lower LDL-C in HeFH patients. We assessed the efficacy and safety of two mipomersen dosing regimens in HeFH patients and explored whether thrice-weekly dosing improves the benefit-risk profile...
November 10, 2018: Atherosclerosis
Daniel Wadsack, Horst Sattler, Marcus E Kleber, Katharina Eirich, Hubert Scharnagl, Günter Fauler, Winfried März, Tanja B Grammer
A 33-year-old female had suffered from spontaneously recurrent bursitis and tendosynovitis/enthesitis of the patellar and Achilles tendons for about 10 years. The episodes of immobilization increased. Ultrasound imaging of the swollen and painful tendons showed chronic inflammation with neoangiogenesis within the tendons and hypoechoic lesions. Clinical and laboratory tests did not provide evidence for a rheumatic disease. Low density lipoprotein cholesterol was elevated. Biopsies of skin lesions did not confirm the suspicion of cutaneous xanthomas...
October 24, 2018: Journal of Clinical Lipidology
Jianglin Fan, Yajie Chen, Haizhao Yan, Baoning Liu, Yanli Wang, Jifeng Zhang, Y Eugene Chen, Enqi Liu, Jingyan Liang
Rabbits (Oryctolagus cuniculus) are one of the most widely used animal models for the study of human lipid metabolism and atherosclerosis because they are more sensitive to a cholesterol diet than other experimental animals such as rodents. Currently, two hypercholesterolemic rabbit models are frequently used for atherosclerosis studies. One is a cholesterol-fed wild-type rabbit and the other is the Watanabe heritable hyperlipidemic (WHHL) rabbit, which is genetically deficient in low density lipoprotein (LDL) receptor function...
November 8, 2018: International Journal of Molecular Sciences
Di Sun, Bing-Yang Zhou, Sha Li, Ning-Ling Sun, Qi Hua, Shu-Lin Wu, Yun-Shan Cao, Yuan-Lin Guo, Na-Qiong Wu, Cheng-Gang Zhu, Ying Gao, Chuan-Jue Cui, Geng Liu, Jian-Jun Li
BACKGROUND: Although there have been many reports in the genetics of familial hypercholesterolemia (FH) worldwide, studies in regard of Chinese population are lacking. In this multi-center study, we aim to characterize the genetic spectrum of FH in Chinese population, and examine the genotype-phenotype correlations in detail. METHODS: A total of 285 unrelated index cases from China with clinical FH were consecutively recruited. Next-generation sequencing and bioinformatics tools were used for mutation detection of LDLR, APOB and PCSK9 genes and genetic analysis...
November 6, 2018: Lipids in Health and Disease
Medhat Farwati, Ashok Kumbamu, David C Kochan, Iftikhar J Kullo
Familial Hypercholesterolemia (FH) is an inherited disorder associated with increased cardiovascular risk that requires patients to make multiple impactful decisions regarding the management of their condition. Patient decision aids (PDAs) can facilitate shared decision-making (SDM) and enable patients to make choices that are concordant with their goals and values. To inform the development of a PDA for patients with FH, we employed a qualitative inductive approach and focus group discussions with patients, physicians, and genetic counselors...
November 4, 2018: Journal of Personalized Medicine
Asier Benito-Vicente, Kepa B Uribe, Shifa Jebari, Unai Galicia-Garcia, Helena Ostolaza, Cesar Martin
Cholesterol is an essential component of cell barrier formation and signaling transduction involved in many essential physiologic processes. For this reason, cholesterol metabolism must be tightly controlled. Cell cholesterol is mainly acquired from two sources: Dietary cholesterol, which is absorbed in the intestine and, intracellularly synthesized cholesterol that is mainly synthesized in the liver. Once acquired, both are delivered to peripheral tissues in a lipoprotein dependent mechanism. Malfunctioning of cholesterol metabolism is caused by multiple hereditary diseases, including Familial Hypercholesterolemia, Sitosterolemia Type C and Niemann-Pick Type C1...
November 1, 2018: International Journal of Molecular Sciences
Pedro Mata, Rodrigo Alonso, Leopoldo Pérez de Isla
PURPOSE OF REVIEW: Familial hypercholesterolemia is a frequent genetic disease associated with lifelong elevation of LDL-cholesterol and premature atherosclerotic cardiovascular disease (ASCVD). Statins are the cornerstone of treatment. However, with the introduction of novel LDL-cholesterol-lowering therapies, it is necessary to identify familial hypercholesterolemia patients presenting a significantly high residual ASCVD risk. The aim of this review is to provide an update on the recent literature concerning cardiovascular risk stratification including the role of coronary imaging...
December 2018: Current Opinion in Lipidology
Maria Cristina de Oliveira Izar, Francisco Antonio Helfenstein Fonseca
No abstract text is available yet for this article.
October 2018: Arquivos Brasileiros de Cardiologia
Richa Tambi, Riad Bayoumi, Peter Lansberg, Yajnavalka Banerjee
BACKGROUND: With the rapid integration of genetics into medicine, it has become evident that practicing physicians as well as medical students and clinical researchers need to be updated on the fundamentals of bioinformatics. To achieve this, the following gaps need to be addressed: a lack of defined learning objectives for "Bioinformatics for Medical Practitioner" courses, an absence of a structured lesson plan to disseminate the learning objectives, and no defined step-by-step strategy to teach the essentials of bioinformatics in the medical curriculum...
October 25, 2018: JMIR Medical Education
Ivo S Petrov, Arman Sh Postadzhiyan, Mariya P Tokmakova, Lyudmila G Kitova, Svetlin N Tsonev, Janet Addison, Reneta T Petkova, Vasil I Lachev
BACKGROUND: Familial hypercholesterolaemia (FH) is a genetic disorder causing accelerated atherosclerosis and premature cardiovascular disease (CVD). This retrospective observational study examined the clinical characteristics and management of FH subjects in Bulgaria over a 12-month period. MATERIALS AND METHODS: Twelve cardiology sites participated in this study from May 2015 to May 2016. Eligible subjects had at least two routine low-density lipo-protein cholesterol (LDL C) measurements and a prescription for lipid-lowering therapy (LLT) at the start of the observation period...
September 1, 2018: Folia Medica
Laney K Jones, Alanna Kulchak Rahm, Kandamurugu Manickam, Loren Butry, Amanda Lazzeri, Timothy Corcoran, Daniel Komar, Navya S Josyula, Sarah A Pendergrass, Amy C Sturm, Michael F Murray
BACKGROUND: The MyCode Community Health Initiative (MyCode) is returning actionable results from whole exome sequencing. Familial hypercholesterolemia (FH) is an inherited condition characterized by premature cardiovascular disease. METHODS: We used multiple methods to assess care in 28 MyCode participants who received FH results. Chart reviews were conducted on 23 individuals in the sample and 7 individuals participated semistructured interviews. RESULTS: Chart reviews for 23 individuals with a Geisinger primary care provider found that 4 individuals (17% of 23) were at LDL-C (low-density lipoprotein cholesterol) goal (of either LDL-C <100 mg/dL for primary prevention and LDL-C <70 mg/dL for secondary prevention) and 17 individuals (74% of 23) were prescribed lipid-lowering therapy before genetic result disclosure...
August 2018: Circulation. Genomic and precision medicine
Hongyu Kuang, Xue Zhou, Li Li, Qijian Yi, Weinian Shou, Tiewei Lu
RATIONALE: Familial hypercholesterolemia (FH) is a common inherited cause of coronary heart disease (CHD) and premature death in an early age. Nevertheless, an ischemic heart failure (IHF) associated with FH seems to be rare, and an early diagnosis and therapy could influence the prognosis. PATIENT CONCERNS: In this 13-year-old girl, multiple xanthomas began to develop from the first day of birth. Until June, 2017, she was admitted to our center due to edema, oliguria, and dyspnea during exertion, which was attributed to a recent respiratory infection...
October 2018: Medicine (Baltimore)
A Benito-Vicente, K B Uribe, H Siddiqi, S Jebari, U Galicia-Garcia, A Larrea-Sebal, A Cenarro, M Stef, H Ostolaza, F Civeira, L Palacios, C Martin
BACKGROUND AND AIMS: Pathogenic mutations in the Low Density Lipoprotein Receptor gene (LDLR) cause Familial Hypercholesterolemia (FH), one of the most common genetic disorders with a prevalence as high as 1 in 200 in some populations. FH is an autosomal dominant disorder of lipoprotein metabolism characterized by high blood cholesterol levels, deposits of cholesterol in peripheral tissues such as tendon xanthomas and accelerated atherosclerosis. To date, 2500 LDLR variants have been identified in the LDLR gene; however, only a minority of them have been experimentally characterized and proven to be pathogenic...
2018: PloS One
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
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