13,776 results match your criteria Hyperlipoproteinemia


Midterm Follow-up of the Transatrial-to-Left-Ventricle Cannulation for Acute Type A Dissection.

Ann Thorac Surg 2022 May 17. Epub 2022 May 17.

Department of Cardiac and Vascular Surgery, University Medical Center, Schleswig-Holstein, Campus Kiel, Kiel, Germany.

Background: It is still controversial as to which cannulation-strategy for acute-type-A-aortic-dissection (AAD) is optimal. Antegrade-perfusion to diminish further organ-mal-perfusion and -ischemia are preferable.

Methods: We retrospectively analyzed a total of 420 patients who underwent AAD-surgery from January 2001 to December 2019. Read More

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Comprehensive (apo)lipoprotein profiling in patients with genetic hypertriglyceridemia using LC-MS and NMR spectroscopy.

J Clin Lipidol 2022 Apr 30. Epub 2022 Apr 30.

Division of Endocrinology, Department of Medicine, Leiden University Medical Center, Leiden, the Netherlands; Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, the Netherlands.

Background: Mutations in genes encoding lipoprotein lipase (LPL) or its regulators can cause severe hypertriglyceridemia (HTG). Thus far, the effect of genetic HTG on the lipid profile has been mainly determined via conventional techniques.

Objective: To show detailed differences in the (apo)lipoprotein profile of patients with genetic HTG by combining LC-MS and NMR techniques. Read More

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[Genetic diseases of lipid metabolism - Focus familial hypercholesterolemia].

Dtsch Med Wochenschr 2022 Apr 11;147(10):e50-e61. Epub 2022 May 11.

Congenital disorders of lipid metabolism are characterised by LDL-C concentrations > 190 mg/dl (4.9 mM) and/or triglycerides > 200 mg/dl (2.3 mM) in young individuals after having excluded a secondary hyperlipoproteinemia. Read More

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[Familial chylomicronemia syndrome: pediatric experience in Argentina].

Arch Argent Pediatr 2022 06;120(3):e123-e127

Hospital Público Materno Infantil, Salta, Argentina.

Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disease, prevalence 1:200,000 - 1:1,000,000, and is characterized by fasting chylomicrons and very high triglycerides > 880 mg/dl. LPL is the most frequently affected gene, then APOC2, GPIHBP1, APOA5, LMF1, all of them compromising the function of lipoproteinlipase. FCS commonly presents in childhood with recurrent abdominal pain, eruptive xanthomas, failure to thrive, pancreatitis, and sometimes asymptomatic. Read More

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Gaps in knowledge and practice for familial hypercholesterolemia among physicians caring for children in Saudi Arabia.

Eur Rev Med Pharmacol Sci 2022 Apr;26(8):2727-2739

Department of Pediatrics, College of Medicine, Qassim University, Qassim, Saudi Arabia.

Objective: Familial hypercholesterolemia (FH) is an inherited genetic disorder that can lead to an early-onset cardiovascular disease if left untreated. Proper awareness of FH among physicians, particularly those taking care of children can facilitate early detection, diagnosis, and treatment. However, data regarding the knowledge, awareness, and practices of physicians in relation to FH are limited worldwide, so we aimed to explore this aspect. Read More

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The Evolving Story of Multifactorial Chylomicronemia Syndrome.

Front Cardiovasc Med 2022 14;9:886266. Epub 2022 Apr 14.

Genetic Dyslipidemias Clinic, Montreal Clinical Research Institute, Montreal, QC, Canada.

Multifactorial chylomicronemia syndrome (MCS or type V hyperlipoproteinemia) is the most frequent cause of severe hypertriglyceridemia and is associated with an increased risk of acute pancreatitis, cardiovascular disease, and non-alcoholic steatohepatitis. The estimated prevalence of MCS in the North American population is 1:600-1:250 and is increasing due to the increasing prevalence of obesity, metabolic syndrome, and type 2 diabetes. Differentiating between familial chylomicronemia syndrome and MCS is crucial due to their very different treatments. Read More

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Cholesterol Metabolic Markers for Differential Evaluation of Patients with Hyperlipidemia and Familial Hypercholesterolemia.

Dis Markers 2022 21;2022:2008556. Epub 2022 Apr 21.

NO.922 Hospital OF PLA Joint Logistics Support Force, Hengyang 421002, China.

The cholesterol metabolism in humans can be indirectly reflected by measuring cholesterol metabolism marker levels. We aimed to investigate the association of cholesterol homeostasis markers on standard lipid profiling components in familial hypercholesteremia and hyperlipidemia patients. A total of 69 hyperlipidemia patients, 25 familial hypercholesteremia (FHC) patients, and 64 healthy controls were enrolled in this study. Read More

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Atherosclerotic cardiovascular disease burden in patients with familial hypercholesterolemia: interpretation of data on involvement of different vascular beds.

Pol Arch Intern Med 2022 04 28;132(4). Epub 2022 Apr 28.

Department of Hypertension, National Institute of Cardiology, Warsaw, Poland

Familial hypercholesterolemia (FH) is a monogenic, autosomal dominant disorder that results in a rise of low‑density lipoprotein cholesterol (LDL‑C) and markedly increased risk of premature atherosclerotic cardiovascular disease. FH is relatively common, treatable, and its clinical course can be improved through early detection and timely initiation of lipid‑lowering medications. The clinical picture of FH is highly variable, with a heterogeneous phenotype even within a single family, ranging from patients with very early onset of major cardiovascular events to those who do not develop overt cardiovascular disease even at an old age. Read More

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[Digiphysical cascade screening model to diagnose familial hypercholesterolemia in relatives to an index case].

Lakartidningen 2022 04 26;119. Epub 2022 Apr 26.

med dr, överläkare, ME endokrinologi, Karolinska universitetssjukhuset, Huddinge.

Familial hypercholesterolemia (FH) is an autosomal dominant hereditary dyslipidemia that leads to high plasma cholesterol levels and a severely increased risk for premature cardiovascular disease. Early primary prevention with lipid lowering drugs can markedly reduce this risk. FH is underdiagnosed in Sweden. Read More

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A rare case of COVID-19 pneumonia with severe hyperlipoproteinemia.

Oxf Med Case Reports 2022 Apr 19;2022(4):omac030. Epub 2022 Apr 19.

Respiratory Disease Center, Fukujuji Hospital, Japan Anti-tuberculosis Association, Kiyose City, Tokyo, Japan.

A 55-year-old woman was admitted to our hospital for coronavirus disease 2019 (COVID-19) pneumonia. Her symptoms improved upon treatment with steroids, remdesivir and heparin. After discharge, she consumed excessive alcohol because of taste disorder due to COVID-19; she also had chylomicronemia with a triglyceride (TG) level of 8750 mg/dl. Read More

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PCSK9 Plasma Levels Are Associated with Mechanical Vascular Impairment in Familial Hypercholesterolemia Subjects without a History of Atherosclerotic Cardiovascular Disease: Results of Six-Month Add-On PCSK9 Inhibitor Therapy.

Biomolecules 2022 04 9;12(4). Epub 2022 Apr 9.

Internal Medicine Unit, Department of Clinical and Experimental Medicine Lipid Center, University of Messina, 98122 Messina, Italy.

Proprotein convertase subtilisin/kexin type-9 (PCSK9) is a key regulator of low-density lipoprotein (LDL) metabolism involved in the degradation of the low-density lipoprotein receptor (LDLR) through complex mechanisms. The PCSK9 plasma levels change according to lipid lowering therapy (LLT). Few data exist regarding the role of PCSK9 in vascular damage. Read More

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Association of Familial Hypercholesterolemia and Statin Use With Risk of Dementia in Norway.

JAMA Netw Open 2022 Apr 1;5(4):e227715. Epub 2022 Apr 1.

The Lipid Clinic, Department of Endocrinology, Morbid Obesity, and Preventive Medicine, Oslo University Hospital, Oslo, Norway.

Importance: Hypercholesterolemia, which is a cardiovascular risk factor, may also be associated with dementia risk. The benefit of statin treatment on dementia risk is controversial.

Objective: To determine whether individuals with familial hypercholesterolemia (FH), who have been exposed to lifelong hypercholesterolemia, have an excess risk of dementia and whether statin use is associated with dementia risk. Read More

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Familial hypercholesterolaemia: a study protocol for identification and investigation of potential causes and markers of subclinical coronary artery disease in the Faroe Islands.

BMJ Open 2022 Apr 12;12(4):e050857. Epub 2022 Apr 12.

Department of Cardiology, Aalborg University Hospital, Aalborg, Denmark

Introduction: Familial hypercholesterolaemia (FH) is the most common monogenic autosomal dominant genetic disorder and is associated with a high risk of premature atherosclerotic cardiovascular disease. The prevalence of FH has been reported to be particularly high in certain founder populations. The population of the Faroe Islands is a founder population, but the prevalence of FH has never been investigated here. Read More

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Diabetes and Familial Hypercholesterolemia: Interplay between Lipid and Glucose Metabolism.

Nutrients 2022 Apr 3;14(7). Epub 2022 Apr 3.

Endocrinology and Nutrition Department, Complejo Hospitalario Universitario Insular Materno-Infantil, 35016 Las Palmas de Gran Canaria, Spain.

Familial hypercholesterolemia (FH) is a genetic disease characterized by high low-density lipoprotein (LDL) cholesterol (LDL-c) concentrations that increase cardiovascular risk and cause premature death. The most frequent cause of the disease is a mutation in the LDL receptor () gene. Diabetes is also associated with an increased risk of cardiovascular disease and mortality. Read More

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Mediterranean Dietary Treatment in Hyperlipidemic Children: Should It Be an Option?

Nutrients 2022 Mar 23;14(7). Epub 2022 Mar 23.

Department of Public Health and Pediatric Sciences, University of Turin, 10126 Turin, Italy.

Background: Diet is considered the cornerstone of lipid management in hyperlipidemic children but evidence to demonstrate the effects of nutrient benefits on the lipid profile is limited.

Aim: The aim of this study is to evaluate the impact of the Mediterranean diet on low-density lipoprotein (LDL-C) and non-high density lipoprotein (HDL-C) decrease in primary hyperlipidemia affected children and in the achievement of therapeutical target levels.

Methods: A retrospective cohort study was used, recruiting = 223 children (10. Read More

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Latest clinical evidence about the effect of PCSK9 monoclonal antibodies in patients with familial hypercholesterolaemia: an updated meta-analysis.

Endokrynol Pol 2022 ;73(1):110-120

The Second People's Hospital of Nanning, the Third Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.

Introduction: Familial hypercholesterolaemia (FH) is the most common autosomal genetic disease of cholesterol metabolism disorder. Proprotein convertase subtilisin/kexin type 9 (PCSK9) monoclonal antibody (mAb) is a new target lipid-regulating drug related to cholesterol metabolism that has been developed in recent years. The reported rate of reduction varies widely, and comprehensive assessments of efficacy and safety are lacking. Read More

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Single Ascending Dose Study of a Short Interfering RNA Targeting Lipoprotein(a) Production in Individuals With Elevated Plasma Lipoprotein(a) Levels.

JAMA 2022 05;327(17):1679-1687

Silence Therapeutics PLC, London, England.

Importance: Lipoprotein(a) (Lp[a]) is an important risk factor for atherothrombotic cardiovascular disease and aortic stenosis, for which there are no treatments approved by regulatory authorities.

Objectives: To assess adverse events and tolerability of a short interfering RNA (siRNA) designed to reduce hepatic production of apolipoprotein(a) and to assess associated changes in plasma concentrations of Lp(a) at different doses.

Design, Setting, And Participants: A single ascending dose study of SLN360, an siRNA targeting apolipoprotein(a) synthesis conducted at 5 clinical research unit sites located in the US, United Kingdom, and Australia. Read More

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The Potential Clinical Benefit of Lowering Lipoprotein(a).

Authors:
Brian A Ference

JAMA 2022 05;327(17):1653-1655

Centre for Naturally Randomized Trials, University of Cambridge, Cambridge, England.

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Quality of life and coping in Dutch homozygous familial hypercholesterolemia patients: A qualitative study.

Atherosclerosis 2022 May 12;348:75-81. Epub 2022 Mar 12.

Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands. Electronic address:

Background And Aims: Homozygous familial hypercholesterolemia (HoFH) is characterized by severely elevated low-density lipoprotein cholesterol (LDL-C) levels leading to extremely premature atherosclerotic cardiovascular disease. Therefore, healthcare professionals consider HoFH to have major impact on patients' life. Remarkably, little is known on how patients deal with their condition. Read More

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The Role of Non-statin Lipid-Lowering Medications in Youth with Hypercholesterolemia.

Curr Atheroscler Rep 2022 05 28;24(5):379-389. Epub 2022 Mar 28.

The Lundquist Institute of Biomedical Innovation at Harbor, UCLA Medical Center, 1124 W. Carson Street, Martin Building, Torrance, CA, 90502, USA.

Purpose Of Review: Lifestyle modification is additive to lipid-lowering medications in the treatment of heterozygous familial hypercholesterolemia (HeFH), which does not respond sufficiently to statin therapy. While both are also important in homozygous familial hypercholesterolemia (HoFH), additional measures such as apheresis may be needed. The purpose of this review is to identify non-statin medications to lower cholesterol that are available for children and adolescents as adjunctive therapy. Read More

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[Research progress of PCSK9 inhibitor pleiotropy].

Zhonghua Xin Xue Guan Bing Za Zhi 2022 Mar;50(3):313-318

Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.

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Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients.

Atherosclerosis 2022 Apr 16;347:63-67. Epub 2022 Mar 16.

Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Italy. Electronic address:

Background And Aims: Familial hypercholesterolemia (FH) is the most relevant genetic cause of early cardiovascular disease (CVD). FH is suspected when low density lipoprotein cholesterol (LDL-C) levels exceed the 95th percentile of the population distribution. Different diagnostic scoring systems have been developed, as the Dutch Lipid Clinic Network (DLCN) score, used worldwide. Read More

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Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations.

J Am Heart Assoc 2022 Apr 24;11(7):e023668. Epub 2022 Mar 24.

Epidemiology and Preventive Pharmacology Service (SEFAP) Department of Pharmacological and Biomolecular Sciences University of Milan Italy.

Background A significant proportion of individuals clinically diagnosed with familial hypercholesterolemia (FH), but without any disease-causing mutation, are likely to have polygenic hypercholesterolemia. We evaluated the distribution of a polygenic risk score, consisting of 12 low-density lipoprotein cholesterol (LDL-C)-raising variants (polygenic LDL-C risk score), in subjects with a clinical diagnosis of FH. Methods and Results Within the Lipid Transport Disorders Italian Genetic Network (LIPIGEN) study, 875 patients who were FH-mutation positive (women, 54. Read More

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Effect of PCSK9 inhibition with evolocumab on lipoprotein subfractions in familial dysbetalipoproteinemia (type III hyperlipidemia).

PLoS One 2022 23;17(3):e0265838. Epub 2022 Mar 23.

Medical Department IV, LMU Klinikum Grosshadern, Munich, Germany.

Background And Aims: Familial dysbetalipoproteinemia (FDBL) is a rare inborn lipid disorder characterized by the formation of abnormal triglyceride- and cholesterol-rich lipoproteins (remnant particles). Patients with FDBL have a high risk for atherosclerotic disease. The effect of PCSK9 inhibition on lipoproteins and its subfractions has not been evaluated in FDBL. Read More

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[Identification of genetic variants associated with familial hypercholesterolemia in Chilean children and adolescents].

Rev Med Chil 2021 Sep;149(9):1267-1274

Centro Avanzado de Medicina Metabólica y Nutrición, Santiago, Chile.

Background: Familial hypercholesterolemia (FH) is commonly associated with mutations in-LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9).

Aim: To identify genetic variants associated with FH in a population of children and adolescents with hypercholesterolemia or a family history of-demonstrated early CVD.

Material And Methods: Clinical and biochemical parameters were evaluated, and nine genes related to FH were sequenced namely LDLR, APOB, PCSK9, LDLRAP1, LIPA, APOE, ABCG5, ABCG8 and STAP1, in 55 children and adolescents aged 1 to 18 years old, from non-consanguineous families. Read More

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September 2021

Prevalent Coronary Artery Disease and Undertreatment in Heterozygous Familial Hypercholesterolemia -Real-World Data and "Heterozygous FH Score" from FAME Study.

Authors:
Atsushi Nohara

J Atheroscler Thromb 2022 05 19;29(5):567-570. Epub 2022 Mar 19.

Department of Clinical Genetics, Ishikawa Prefectural Central Hospital, Kanazawa, Japan.

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Value of Genetic Testing for Lipoprotein(a) Variants.

Circ Genom Precis Med 2022 Apr 21;15(2):e003737. Epub 2022 Mar 21.

Department of Clinical Biochemistry and The Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Denmark. Department of Clinical Medicine Faculty of Health and Medical Sciences, University of Copenhagen, Denmark.

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