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J Atheroscler Thromb 2018 Dec 15. Epub 2018 Dec 15.

Diabetes and Lifestyle-related Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association.

Pharmacological treatments to decrease low-density lipoprotein (LDL) cholesterol (LDL-C) have limited effects on patients with homozygous familial hypercholesterolemia (HoFH). Since LDL receptors are located mainly in the liver, liver transplantation is considered to be the only way to correct the hepatic cholesterol metabolism abnormalities in HoFH. Liver transplantations, including those combined with heart transplantation, for HoFH have been increasing since 1984, making this a globally established therapeutic option for HoFH. Read More

Intern Med 2018 15;57(24):3551-3557. Epub 2018 Dec 15.

Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kumamoto University, Japan.

The low-density lipoprotein-cholesterol (LDL-C) level of a 38-year-old man diagnosed with acute coronary syndrome was 257 mg/dL. The administration of a proprotein convertase subtilisin-kexin type 9 (PCSK9) antibody in addition to rosuvastatin plus ezetimibe was initiated, reducing his LDL-C level to 37 mg/dL. A genetic analysis revealed both an LDL receptor (LDLR) mutation and a PCSK9 V4I mutation. Read More

J Clin Lipidol 2018 Nov 3. Epub 2018 Nov 3.

Department of Paediatric Medicine, Amsterdam UMC, University of Amsterdam, the Netherlands.

Background: Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder that may cause life-threatening cardiovascular disease (CVD) at childhood. Marginal effectiveness of statins in reducing low-density lipoprotein cholesterol (LDL-C) is the reason why extracorporeal removal of LDL-C by lipoprotein apheresis (LA) is recommended at the earliest possible age.

Objective: It is, however, unknown to what extent LA effectively reduces the burden of CVD in children with HoFH. Read More

Curr Opin Clin Nutr Metab Care 2018 Dec 13. Epub 2018 Dec 13.

FH Foundation, Pasadena, California, USA.

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. Read More

Clin Pharmacol Ther 2018 Dec 14. Epub 2018 Dec 14.

Division of Clinical Pharmacology, Medical Toxicology and Therapeutic Innovation, Children's Mercy, Kansas City, MO.

This study investigated the impact of SLCO1B1 genotype on pravastatin systemic exposure in hypercholesterolemic children and adolescents. Participants (8-20 years) with at least one allelic variant of SLCO1B1 c.521T>C (521TC, n=15; 521CC, n=2) and wild type controls (521TT, n=15) completed a single oral dose pharmacokinetic study. Read More

Mol Ther Methods Clin Dev 2018 Dec 5;11:191-201. Epub 2018 Dec 5.

Gene Therapy Program, Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Systemic delivery of adeno-associated viral (AAV) vectors has been evaluated for the treatment of several liver diseases, including homozygous familial hypercholesterolemia, ornithine transcarbamylase deficiency, and hemophilia. Here, we evaluated this approach for the treatment of Crigler-Najjar syndrome. We administered wild-type rhesus macaques with 1. Read More

Nefrologia 2018 Dec 10. Epub 2018 Dec 10.

Servicio de Nefrología, Hospital San Pedro de Alcántara, Complejo Hospitalario Universitario de Cáceres, Cáceres, España.

Atherosclerosis 2018 Dec 3. Epub 2018 Dec 3.

Togolok Moldo 3, Bishkek, Kyrgyzstan.

Transfus Apher Sci 2018 Dec 5. Epub 2018 Dec 5.

University of Health Sciences, Diskapi Yildirim Beyazit Training and Research Hospital, Department of Hematology, Ankara, Turkey.

Introduction: Different modalities of low-density lipoprotein (LDL) apheresis are used to treat patients with familial hypercholesterolemia (FH). The aim of this study was to describe the efficacy of the Double Filtration Plasmapheresis (DFPP) method for FH cases in our hands and to compare with other LDL apheresis techniques.

Materials And Methods: This retrospective study was conducted between January 2016 and January 2018 in the University of Health Sciences, Diskapi Yildirim Beyazit Training and Research Hospital, Adult Hematology Clinic and Therapeutic Apheresis Unit. Read More

Clin Epidemiol 2018 15;10:1667-1677. Epub 2018 Nov 15.

Practice Fusion, San Francisco, CA, USA.

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 , , and genes. Agreement between clinical and genetic diagnosis of FH varies. Read More

Am J Case Rep 2018 Dec 10;19:1463-1466. Epub 2018 Dec 10.

Department of Internal Medicine, Haga Teaching Hospital, Hague, Netherlands.

BACKGROUND This is a case report of a male patient who presented with a history of right flank pain based on renal infarction. Initially the symptoms were misdiagnosed as acute pyelonephritis. CASE REPORT A 47-year-old male with a history of familial hypercholesterolemia and cerebral infarction presented at the Emergency Department with a 3-day history of acute right-sided flank pain. Read More

J Clin Lipidol 2018 Nov 7. Epub 2018 Nov 7.

Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada; ICES, Toronto, Ontario, Canada; Schulich Heart Centre, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada.

Background: Current data from individual studies present conflicting evidence about the relationship between risk factors and cardiovascular disease (CVD) in heterozygous familial hypercholesterolemia (FH).

Objectives: We conducted a systematic review and meta-analysis to quantify the association between various CVD risk factors and CVD in FH.

Methods: We searched MEDLINE, EMBASE, Global Health, the Cochrane Library, and PubMed for English-language studies reporting adjusted-associations between cardiovascular, behavioral, or clinical risk factors and CVD with ≥ 100 participants. Read More

Eur J Radiol 2018 Dec 5;109:1-7. Epub 2018 Oct 5.

Department of Ultrasonography, Capital Medical University Affiliated Beijing Anzhen Hospital, 2 Anzhen Road St, Chaoyang District, Beijing, 100029, China.

Objective: To investigate the feasibility of grayscale ultrasound and quantitative shear wave elastography (SWE) for assessing the image features and stiffness of the Achilles tendon in patients with familial hypercholesterolemia (FH) compared with healthy controls.

Methods: A total of 38 Achilles tendons from healthy control participants and 94 from patients with FH were examined with grayscale ultrasound and SWE. Each Achilles tendon examination was performed on 3 different segments (proximal, middle, and distal). Read More

Can J Cardiol 2018 Dec;34(12):1553-1563

Research Institute of the McGill University Health Centre, Royal Victoria Hospital, Montréal, Quebec, Canada; Department of Medicine, McGill University, Montréal, Quebec, Canada.

Familial hypercholesterolemia (FH) is the most common monogenic disorder causing premature atherosclerotic cardiovascular disease. It affects 1 in 250 individuals worldwide, and of the approximately 145,000 Canadians estimated to have FH, most are undiagnosed. Herein, we provide an update of the 2014 Canadian Cardiovascular Society position statement on FH addressing the need for case identification, prompt recognition, and treatment with statins and ezetimibe, and cascade family screening. Read More

J Transl Med 2018 Dec 10;16(1):345. Epub 2018 Dec 10.

Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, BeiLiShi Road 167, Beijing, 100037, China.

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. Read More

Expert Opin Pharmacother 2018 Dec 10:1-5. Epub 2018 Dec 10.

a Division of Endocrinology, Metabolism, and Lipid Research, Department of Medicine , Washington University School of Medicine , St. Louis , MO , USA.

Introduction: Familial Hypercholesterolemia (FH) is an inherited disorder characterized by a defect in the binding and internalization of low-density lipoprotein (LDL) particles, resulting in markedly elevated LDL levels and premature atherosclerosis. It is one of the most common inherited disorders of lipid metabolism. Many FH patients, especially those with homozygous FH do not reach LDL goals with traditional LDL therapies and may require additional, less often used, therapies. Read More

Expert Opin Pharmacother 2018 Dec 6:1-4. Epub 2018 Dec 6.

a Biomedical Department of Internal Medicine and Medical Specialties , University of Palermo , Palermo , Italy.

Cell J 2019 Apr 18;21(1):86-91. Epub 2018 Nov 18.

Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran. Electronic

Objective: APOB-related familial hypercholesterolemia (FH) is the most common hereditary hyperchlosterolemia with an autosomal dominant pattern. A number of APOB variants are the most important risk factors for hyperchlosterolemia. APOB is a large glycoprotein that plays an important role in the metabolism of lipoproteins in the human body. Read More

J Clin Lipidol 2018 Nov 7. Epub 2018 Nov 7.

Department of Medicine, Centre for Heart and Lung Innovation, University of British Columbia, Vancouver, British Columbia, Canada.

Background: Achilles tendon xanthoma (ATX) results from tendon thickening and subclinical inflammation triggered by hypercholesterolemia, and is associated with more severe coronary artery disease and a higher risk of cardiovascular events. The ability to detect ATX by clinical examination is limited, and diagnostic imaging, for instance, using ultrasonography or magnetic resonance imagine (MRI), may improve the identification of ATX. However, the accuracy of ultrasound (US) imaging or MRI in identifying ATX in people with familial hypercholesterolemia (FH) has not been systematically reviewed. Read More

Arq Bras Cardiol 2018 Dec;111(6):822-823

Instituto do Coração (InCor), São Paulo, SP - Brazil.

Nutrients 2018 Dec 1;10(12). Epub 2018 Dec 1.

Wihuri Research Institute, 00290 Helsinki, Finland.

This review covers the current knowledge about plant stanol esters as a dietary treatment option for heterozygous familial hypercholesterolemia (he-FH) children. The current estimation of the prevalence of he-FH is about one out of 200⁻250 persons. In this autosomal dominant disease, the concentration of plasma low-density lipoprotein cholesterol (LDL-C) is strongly elevated since birth. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Dec;35(6):783-786

McKusick-Zhang Center for Genetic Medicine and State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100005, China.

Objective: To screen for LDLR gene mutations in 9 patients with familial hypercholesterolemia (FH).

Methods: All exons of the LDLR gene and flanking intronic sequences were amplified by PCR and subjected to automatic DNA sequencing. For patients with homozygous or compound heterozygous mutations, parental DNA sequencing or T cloning sequencing was carried out to determine the parental origin of the mutant alleles. Read More

J Cardiol 2018 Nov 30. Epub 2018 Nov 30.

Department of Cardiovascular Medicine, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.

Background: Alirocumab, a fully human monoclonal antibody to proprotein convertase subtilisin/kexin type 9, given every 2 weeks (Q2W), significantly reduced low-density lipoprotein cholesterol (LDL-C) levels in Japanese hypercholesterolemic patients on background statin. We evaluated alirocumab 150mg every 4 weeks (Q4W) in patients on lowest-dose statin or non-statin lipid-lowering therapy (LLT).

Methods: ODYSSEY NIPPON was a double-blind study conducted in Japanese patients with LDL-C ≥100mg/dL (heterozygous familial hypercholesterolemia or non-familial hypercholesterolemia with coronary heart disease) or ≥120mg/dL (non-familial hypercholesterolemia, Japan Atherosclerosis Society category III) on atorvastatin 5mg/day or non-statin LLT. Read More

Atherosclerosis 2018 Nov 10;280:109-117. Epub 2018 Nov 10.

Sections of Cardiology and Cardiovascular Research, Baylor College of Medicine, Houston, TX, USA.

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. Read More

Atherosclerosis 2018 Nov 17;280:85-91. Epub 2018 Nov 17.

Diabetes Center for Children and Adolescents, Children's Hospital AUF DER BULT, Hannover, Germany.

Background And Aims: Lipid disorders are often detected very late, particularly in affected young children. We evaluated the feasibility of a screening for LDL-hypercholesterolemia (highLDL) among toddlers and preschoolers.

Methods: Population-based screening has been offered to all children (2-6 years) living in the State of Lower Saxony, Germany, with capillary blood sampling for detection of elevated LDL-cholesterol (LDL-C ≥ 135 mg/dL). Read More

J Atheroscler Thromb 2018 Nov 27. Epub 2018 Nov 27.

Institute for Biological Functions, Chubu University.

Int J Cardiol 2018 Nov 20. Epub 2018 Nov 20.

Sports Medicine Unit, Orthopedics, Aging and Rehabilitation Area; Fondazione Policlinico Universitario A. Gemelli, IRCCS, Roma, Italy; Università Cattolica del Sacro Cuore, Roma, Italy.

Background: Pre-participation screening (PPS) of athletes aged over 35 years (master athletes, MA) is a major concern in Sports Cardiology. In this population, sports-related sudden cardiac death is rare but usually due to coronary atherosclerosis (CA). Coronary CT Angiography (CCTA) has changed the approach to diagnosis/management of CA, but its role in this context still needs to be assessed. Read More

Praxis (Bern 1994) 2018 Nov;107(24):1345-1353

1 Klinik für Endokrinologie, Diabetologie, Osteologie und Stoffwechselkrankheiten, Kantonsspital St. Gallen.

Diagnosis and Treatment of Familial Hypercholesterolemia Abstract. Familial hypercholesterolemia secondary to heterozygous mutations in the LDL receptor, Apolipoprotein B or PCSK9 gene is characterized by 2- to 3-fold elevated LDL cholesterol levels, premature atherosclerosis and extravascular cholesterol deposits (tendon xanthomata, corneal arcus). The same phenotype may occur if a person carries several LDL cholesterol rising polymorphisms (polygenic FH). Read More

J Clin Lipidol 2018 Oct 29. Epub 2018 Oct 29.

Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan; Department of Cardiovascular Medicine, Kitasato University School of Medicine, Sagamihara, Japan.

Background: Tendon xanthomas are accumulations of collagen and macrophages, which contain cholesterol esters and a marker of high risk for coronary artery disease (CAD).

Objective: The aim of the article was to clarify whether the presence of Achilles tendon thickening (ATT) was associated with disease severity and plaque vulnerability in patients with CAD.

Methods: A total of 241 consecutive patients who underwent percutaneous coronary intervention and ATT assessment were analyzed. Read More

J Lipid Res 2018 Nov 21. Epub 2018 Nov 21.

University of California, San Francisco, United States

Proprotein convertase subtilisin/kexin type 9 (PCSK9) targets the LDL receptor (LDLR) for degradation, increasing plasma LDL and, consequently, cardiovascular risk. Uptake of secreted PCSK9 is required for its effect on the LDLR, and LDL itself inhibits this uptake, though how it does so remains unclear. In this study, we investigated the relationship between LDL, the PCSK9:LDLR interaction, and PCSK9 uptake. Read More

J Clin Lipidol 2018 Oct 24. Epub 2018 Oct 24.

Department of Internal Medicine V (Nephrology, Rheumatology, Hypertensiology, Endocrinolgy, Diabetology), Mannheim Medical Faculty, University of Heidelberg, Mannheim, Germany; Mannheim Institute of Public Health, Social and Preventive Medicine, Mannheim Medical Faculty, University of Heidelberg, Mannheim, Germany. Electronic address:

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. Read More

Atherosclerosis 2018 Nov 12. Epub 2018 Nov 12.

Wolfson College, University of Oxford, Oxford, UK.

Background And Aims: The International Atherosclerosis Society (IAS) has proposed that patients with "severe" FH (SFH) would warrant early and more aggressive cholesterol-lowering treatment such as with PCSK9 inhibitors. SFH is diagnosed if LDL-cholesterol (LDLC) > 10 mmol/L, or LDLC >8.0 mmol/L plus one high-risk feature, or LDLC >5 mmol/L plus two high-risk features. Read More

Nutrients 2018 Nov 16;10(11). Epub 2018 Nov 16.

Department of Nutrition, Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo, P.O. Box 1046, Blindern, 0317 Oslo, Norway.

Gut microbiota have recently been suggested to play a part in low-grade systemic inflammation, which is considered a key risk factor for cardiometabolic disorders. Diet is known to affect gut microbiota; however, the effects of diet and dietary components on gut microbiota and inflammation are not fully understood. In the present review, we summarize recent research on human dietary intervention studies, investigating the effects of healthy diets or dietary components on gut microbiota and systemic inflammation. Read More

JACC Cardiovasc Imaging 2018 Nov 8. Epub 2018 Nov 8.

Heart Institute (InCor), University of São Paulo Medical School Hospital, São Paulo, Brazil; Hospital Israelita Albert Einstein, São Paulo, Brazil. Electronic address:

Objectives: The aim of this study was to evaluate the role of coronary artery calcium (CAC) as a predictor of atherosclerotic cardiovascular disease (ASCVD) (fatal or not myocardial infarction, stroke, unstable angina requiring revascularization, and elective myocardial revascularization) events in asymptomatic primary prevention molecularly proven heterozygous familial hypercholesterolemia (FH) subjects receiving standard lipid-lowering therapy.

Background: FH is associated with premature ASCVD. However, the clinical course of ASCVD in subjects with FH is heterogeneous. Read More

JACC Cardiovasc Imaging 2018 Nov 8. Epub 2018 Nov 8.

Departments of Medicine (Cardiovascular Division) and Radiology, Brigham and Women's Hospital, Boston, Massachusetts. Electronic address:

Cureus 2018 Sep 7;10(9):e3269. Epub 2018 Sep 7.

Clinical Biomedical Science, Florida Atlantic University Charles E. Schmidt College of Medicine, Boca Raton, USA.

Objective To assess the prevalence of and risk factors for cognitive decline and dementia in individuals greater than 65 years of age in Cumbayá, Quito, Ecuador. Methods This is a cross-sectional observational study that was carried out in adults over age 65. The Mini Mental State Examination (MMSE), Ascertain Dementia Eight-Item Informant Questionnaire (AD8), and Mini Nutritional Assessment (MNA) were used to assess the cognitive status and nutritional habits of this population. Read More

Nat Rev Cardiol 2018 Nov 12. Epub 2018 Nov 12.

TIMI Study Group, Division of Cardiovascular Medicine, Brigham and Women's Hospital and Harvard Medical School, Hale Building for Transformative Medicine, Boston, MA, USA.

The gene encoding PCSK9 was first identified and linked to the phenotype of familial hypercholesterolaemia approximately 15 years ago. Soon after, studies uncovered the role of PCSK9 in the regulation of LDL-receptor recycling and identified loss-of-function variants of PCSK9 that were associated with low circulating levels of LDL cholesterol (LDL-C) and a reduced risk of coronary artery disease. With amazing rapidity, monoclonal antibodies against PCSK9 were developed and studied in large clinical programmes. Read More

Orphanet J Rare Dis 2018 Nov 12;13(1):202. Epub 2018 Nov 12.

School of Medical and Health Sciences, Edith Cowan University, 270 Joondalup Drive, Joondalup, Perth, WA, 6027, Australia.

Background: Alleviating the burden of rare diseases requires research into new diagnostic and therapeutic strategies. We undertook a systematic review to identify and compare the impact of stand-alone registries, registries with biobanks, and rare disease biobanks on research outcomes in rare diseases.

Methods: A systematic review and meta-aggregation was conducted using the preferred reporting items for systematic reviews and meta-analyses (the PRISMA statement). Read More

Atherosclerosis 2018 Dec 19;279:62-72. Epub 2018 Oct 19.

College of Health Sciences, Biomedical Program, Qatar University, Doha, Qatar. Electronic address:

Background And Aims: Familial hypercholesterolemia (FH) is an inherited genetic disorder of lipid metabolism characterized by a high serum LDL-cholesterol profile and xanthoma formation, and FH increases the risk of premature atherosclerosis and cardiovascular disease (CVD). Mutations in the low-density lipoprotein (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin 9 (PCSK9), and LDLRAP1 genes have been associated with FH. Although FH is a major risk for CVD, the disease prevalence and its underlying molecular basis in the 22 Arab countries are still understudied. Read More

Sci Rep 2018 Nov 9;8(1):16614. Epub 2018 Nov 9.

Instituto Biofisika (UPV/EHU, CSIC) and Departamento de Bioquímica, Universidad del País Vasco, Apdo. 644, 48080, Bilbao, Spain.

Familial Hypercholesterolemia (FH) is a common genetic disorder caused most often by mutations in the Low Density Lipoprotein Receptor gene (LDLr) leading to high blood cholesterol levels, and ultimately to development of premature coronary heart disease. Genetic analysis and subsequent cascade screening in relatives allow diagnosis of FH at early stage, especially relevant to diagnose children. So far, more than 2300 LDLr variants have been described but only a minority of them have been functionally analysed to evaluate their pathogenicity in FH. Read More

Int J Mol Sci 2018 Nov 8;19(11). Epub 2018 Nov 8.

Institute of Translational Medicine, Medical College, Yangzhou University, Yangzhou 225001, China.

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. Read More

Atherosclerosis 2018 Dec 17;279:52-61. Epub 2018 Oct 17.

Department of Nutrition, Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo, PB 1046, Blindern, 0317, Oslo, Norway; Norwegian National Advisory Unit on Familial Hypercholesterolemia, Oslo University Hospital, Rikshospitalet, Norway.

Background And Aims: The effects of a low carbohydrate/high fat (LCHF) diet on health are debated. This study aims to explore the effects of a diet with less than 20 g carbohydrates per day (LCHF) on plasma low density lipoprotein cholesterol (LDL-C) in young and healthy adults. The secondary aim is the assessment of lipid profile and peripheral blood mononuclear cells (PBMC) gene expression. Read More

Lipids Health Dis 2018 Nov 6;17(1):252. Epub 2018 Nov 6.

Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100037, China.

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. Read More

J Pers Med 2018 Nov 4;8(4). Epub 2018 Nov 4.

Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55905, USA.

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. Read More

Med Hypotheses 2018 Dec 10;121:60-63. Epub 2018 Sep 10.

Department of Psychology and Department of Molecular Pharmacology and Physiology, Center for Preclinical and Clinical Research on PTSD, University of South Florida, Tampa, FL, USA. Electronic address:

High low-density-lipoprotein cholesterol (LDL-C) is routinely described as the main cause of cardiovascular disease (CVD) in familial hypercholesterolemia (FH). However, numerous observations are in conflict with Bradford Hill's criteria for causality: a) degree of atherosclerosis is not associated with LDL-C; b) on average the life span of people with FH is about the same as for other people; c) LDL-C of people with FH without CVD is almost as high as in FH patients of the same age with CVD; and d) questionable benefit or none at all have been achieved in the controlled, randomized cholesterol-lowering trials that have included FH individuals only. Obviously, those individuals with FH who suffer from CVD may have inherited other and more important risk factors of CVD than high LDL-C. Read More

Mayo Clin Proc 2018 Nov;93(11):1600-1610

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

Objectives: To identify clinically actionable genetic variants from targeted sequencing of 68 disease-related genes, estimate their penetrance, and assess the impact of disclosing results to participants and providers.

Patients And Methods: The Return of Actionable Variants Empirical (RAVE) Study investigates outcomes following the return of pathogenic/likely pathogenic (P/LP) variants in 68 disease-related genes. The study was initiated in December 2016 and is ongoing. Read More

J Clin Lipidol 2018 Nov - Dec;12(6):1549. Epub 2018 Oct 9.

Monash Cardiovascular Research Centre, MonashHEART, Monash Health, Monash University, Melbourne, Australia.

J Clin Lipidol 2018 Nov - Dec;12(6):1549-1550. Epub 2018 Oct 9.

Fundación Hipercolesterolemia Familiar, Madrid, Spain.

Int J Mol Sci 2018 Nov 1;19(11). Epub 2018 Nov 1.

Departamento de Bioquímica, Instituto Biofisika (UPV/EHU, CSIC), Universidad del País Vasco, Apdo.644, 48080 Bilbao, Spain.

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. Read More