1,305 results match your criteria Dysbetalipoproteinemia


Alternative C3 Complement System: Lipids and Atherosclerosis.

Int J Mol Sci 2021 May 12;22(10). Epub 2021 May 12.

Cardiovascular Program-ICCC, Research Institute-Hospital Santa Creu i Sant Pau, IIB-Sant Pau, 08025 Barcelona, Spain.

Familial hypercholesterolemia (FH) is increasingly associated with inflammation, a phenotype that persists despite treatment with lipid lowering therapies. The alternative C3 complement system (C3), as a key inflammatory mediator, seems to be involved in the atherosclerotic process; however, the relationship between C3 and lipids during plaque progression remains unknown. The aim of the study was to investigate by a systems biology approach the role of C3 in relation to lipoprotein levels during atherosclerosis (AT) progression and to gain a better understanding on the effects of C3 products on the phenotype and function of human lipid-loaded vascular smooth muscle cells (VSMCs). Read More

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APOE gene variants in primary dyslipidemia.

Atherosclerosis 2021 May 23;328:11-22. Epub 2021 May 23.

Laboratory for Vascular Translational Science (LVTS), INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, Paris, France; Université de Paris, Paris, France. Electronic address:

Apolipoprotein E (apoE) is a major apolipoprotein involved in lipoprotein metabolism. It is a polymorphic protein and different isoforms are associated with variations in lipid and lipoprotein levels and thus cardiovascular risk. The isoform apoE4 is associated with an increase in LDL-cholesterol levels and thus a higher cardiovascular risk compared to apoE3. Read More

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Hyperlipidemic myeloma, a rare form of acquired dysbetalipoproteinemia, in an HIV seropositive African female.

Clin Chim Acta 2021 May 28;520:71-75. Epub 2021 May 28.

Division of Endocrinology and Metabolism, Department of Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

Dysbetalipoproteinemia (DBL) is an uncommon condition characterized by a mixed hyperlipidemia due to accumulation of remnant lipoproteins and is highly atherogenic. Typically, DBL is an autosomal recessive condition requiring an additional metabolic stress with reduced apolipoprotein E (apoE) function. However, DBL is also described in patients with multiple myeloma without the characteristic apoE2/E2 mutation seen in familial DBL. Read More

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Dysbetalipoproteinemia and other lipid abnormalities related to apo E.

Clin Investig Arterioscler 2021 May;33 Suppl 2:50-55

Unidad de Lípidos, Servicio de Medicina Interna, Hospital Universitario Miguel Servet, IIS Aragón, CIBERCV, Universidad de Zaragoza, Zaragoza, España. Electronic address:

Dysbetalipoproteinaemia (or type III hyperlipoproteinaemia) is a severe mixed hyperlipidaemia resulting from the accumulation of remnant chylomicron and VLDL particles in plasma, also called β-VLDL. It is caused by a defect in the recognition by hepatic LDL and lipoprotein receptor-related protein (LRP) of β-VLDL. Mutations in the APOE gene, especially in subjects homozygous for the ɛ2/ɛ2 allele, are responsible for this lack of receptor recognition. Read More

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Apolipoprotein E and Atherosclerosis.

Authors:
A D Marais

Curr Atheroscler Rep 2021 May 10;23(7):34. Epub 2021 May 10.

Division of Chemical Pathology, Pathology Department, University of Cape Town Health Science Faculty, Anzio Rd, Observatory, Cape Town, 7925, South Africa.

Purpose Of Review: The functions, genetic variations and impact of apolipoprotein E on lipoprotein metabolism in general are placed in the context of clinical practice dealing with moderate dyslipidaemia as well as dysbetalipoproteinemia, a highly atherogenic disorder and lipoprotein glomerulopathy.

Recent Findings: Additional variants of apolipoprotein E and participation of apolipoprotein E in inflammation are of interest. The mostly favourable effects of apolipoprotein E2 as well as the atherogenic nature of apolipoproteinE4, which has an association with cognitive impairment, are confirmed. Read More

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Adiposity and the development of dyslipidemia in APOE ε2 homozygous subjects: A longitudinal analysis in two population-based cohorts.

Atherosclerosis 2021 05 3;325:57-62. Epub 2021 Apr 3.

Department of Vascular Medicine, University Medical Center Utrecht, Utrecht University, the Netherlands.

Background And Aims: Familial dysbetalipoproteinemia (FD), characterized by remnant lipoprotein accumulation and premature cardiovascular disease, occurs in homozygous carriers of the APOE ε2 allele, but genetic predisposition alone does not suffice for the clinical phenotype. Cross-sectional studies suggest that a second metabolic hit - notably adiposity or insulin resistance - is required, but the association between these risk factors and development of FD has not been studied prospectively.

Methods: For this study, we evaluated 18,987 subjects from two large prospective Dutch population-based cohorts (PREVEND and Rotterdam Study) of whom 118 were homozygous APOE ε2 carriers. Read More

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Efficacy and safety of volanesorsen in patients with multifactorial chylomicronaemia (COMPASS): a multicentre, double-blind, randomised, placebo-controlled, phase 3 trial.

Lancet Diabetes Endocrinol 2021 05 30;9(5):264-275. Epub 2021 Mar 30.

Department of Medicine, University California San Diego, La Jolla, CA, USA. Electronic address:

Background: Volanesorsen is an antisense oligonucleotide that targets hepatic apolipoprotein C-III synthesis and reduces plasma triglyceride concentration. The aim of this study was to explore the safety and efficacy of volanesorsen in patients with multifactorial chylomicronaemia syndrome.

Methods: The COMPASS trial was a randomised, placebo-controlled, double-blind, phase 3 study done at 38 international clinical sites in Canada, France, Germany, the Netherlands, UK, and USA. Read More

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Case Report: Hypertriglyceridemia and Premature Atherosclerosis in a Patient With Apolipoprotein E Gene εε Genotype.

Front Cardiovasc Med 2020 18;7:585779. Epub 2021 Jan 18.

National Medical Research Center for Therapy and Preventive Medicine of the Ministry of Healthcare of the Russian Federation, Moscow, Russia.

We present a case of a 40-year-old male with premature atherosclerosis, with evidence of both eruptive and tendinous xanthomas, which could imply an increase in both low-density lipoprotein (LDL) and triglyceride (TG) levels. However, his LDL was 2.08 mmol/l, TG -11. Read More

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January 2021

Multi-omic signatures of atherogenic dyslipidaemia: pre-clinical target identification and validation in humans.

J Transl Med 2021 01 6;19(1). Epub 2021 Jan 6.

Department of Biochemistry, Faculty of Medicine, Medical University of Gdansk, 1 Debinki St, 80-211, Gdansk, Poland.

Background: Dyslipidaemia is a major risk factor for atherosclerosis and cardiovascular diseases. The molecular mechanisms that translate dyslipidaemia into atherogenesis and reliable markers of its progression are yet to be fully elucidated. To address this issue, we conducted a comprehensive metabolomic and proteomic analysis in an experimental model of dyslipidaemia and in patients with familial hypercholesterolemia (FH). Read More

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January 2021

Apolipoprotein C-III and cardiovascular diseases: when genetics meet molecular pathologies.

Mol Biol Rep 2021 Jan 3;48(1):875-886. Epub 2021 Jan 3.

Environmental Health Research Lab (EHRL), Faculty of Sciences V, Lebanese University, Nabatieh, Lebanon.

Cardiovascular diseases (CVD) have overtaken infectious diseases and are currently the world's top killer. A quite strong linkage between this type of ailments and elevated plasma levels of triglycerides (TG) has been always noticed. Notably, this risk factor is mired in deep confusion, since its role in atherosclerosis is uncertain. Read More

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January 2021

Apolipoprotein B: the Rosetta Stone of lipidology.

Curr Opin Endocrinol Diabetes Obes 2021 Apr;28(2):90-96

Department of Medicine, Mike and Valeria Rosenbloom Centre for Cardiovascular Prevention, McGill University Health Centre, Montreal, Quebec, Canada.

Purpose Of Review: This review summarizes the evidence that apolipoprotein B (apoB) integrates the conventional lipid markers - total cholesterol, triglycerides, LDL-cholesterol, and non-HDL-cholesterol - into a single index that accurately and simply quantitates the atherogenic risk due to the apoB lipoprotein particles.

Recent Findings: Marked hypertriglyceridemia remains the essential signal for hyperchylomicronemia and potential pancreatitis. However, with the exception of Lp(a) and the abnormal cholesterol-enriched remnant particles that are the hallmark of type III hyperlipoproteinemia, recent evidence from discordance analyses and Mendelian randomization indicate that apoB integrates the risk due to the atherogenic lipoprotein particles because all LDL particles are, within the limits of our ability to measure any differences, equally atherogenic and all, except the largest VLDL particles are, within the limits of our ability to measure any differences, equally atherogenic. Read More

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Ketogenic diets, not for everyone.

J Clin Lipidol 2021 Jan-Feb;15(1):61-67. Epub 2020 Oct 31.

Departments of Medicine and Biochemistry, Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.

Background: The adoption of low-carbohydrate diets can lead to weight loss in many patients. However, these now widespread diets also have the potential to exacerbate hypercholesterolemia.

Objective: The objective of this study is to display the potentially harmful effects of the ketogenic diet on cholesterol levels in patients with or without underlying hyperlipidemia. Read More

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October 2020

Importance of the triglyceride level in identifying patients with a Type III Hyperlipoproteinemia phenotype using the ApoB algorithm.

J Clin Lipidol 2021 Jan-Feb;15(1):104-115.e9. Epub 2020 Oct 20.

Ciccarone Center for the Prevention of Cardiovascular Disease, Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA; Welch Center for Prevention, Epidemiology, and Clinical Research, Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA. Electronic address:

Background: Hyperlipoproteinemia Type III (HLP3), also known as dysbetalipoproteinemia, is defined by cholesterol and triglyceride (TG) enriched remnant lipoprotein particles (RLP). The gold standard for diagnosis requires demonstration of high remnant lipoprotein particle cholesterol (RLP-C) by serum ultracentrifugation (UC), which is not readily available in daily practice. The apoB algorithm can identify HLP3 using total cholesterol (TC), plasma triglyceride (TG), and apoB. Read More

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October 2020

Modern prevalence of dysbetalipoproteinemia (Fredrickson-Levy-Lees type III hyperlipoproteinemia).

Arch Med Sci 2020 2;16(5):993-1003. Epub 2019 Aug 2.

Ciccarone Center for the Prevention of Cardiovascular Disease, Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Introduction: Dysbetalipoproteinaemia (HLP3) is a disorder characterized by excess cholesterol-enriched, triglyceride-rich lipoprotein remnants in genetically predisposed individuals that powerfully promote premature cardiovascular disease if untreated. The current prevalence of HLP3 is largely unknown.

Material And Methods: We performed cross-sectional analysis of 128,485 U. Read More

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[Familial chylomicronemia].

Medicina (B Aires) 2020 ;80(4):348-358

Universidad de los Andes, Facultad de Medicina, Bogotá, Colombia. E-mail:

Familial chylomicronemia is a disease in which a genetic mutation affects the ability of the organism to metabolize triglycerides bound to lipoproteins, causing extremely high plasma triglycerides and associated consequences. The most frequent complication is acute pancreatitis, which may lead to multiorganic failure or pancreatic insufficiency. Familial chylomicronemia also exerts a profound negative impact on quality of life, social relationships and professional development. Read More

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October 2020

Evinacumab for Homozygous Familial Hypercholesterolemia.

N Engl J Med 2020 08;383(8):711-720

From the Faculty of Health Sciences, University of the Witwatersrand, Johannesburg (F.J.R.); the Cardiometabolics Unit, Zena and Michael A. Wiener Cardiovascular Institute, Marie-Josee and Henry R. Kravis Center for Cardiovascular Health, Icahn School of Medicine at Mount Sinai, New York (R.S.R.), and Regeneron Pharmaceuticals, Tarrytown (S.A., P.B, K.-C.C., D.A.G., N.K., R.P., D.M.W. G.D.Y., Y.Z.) - both in New York; the Department of Vascular Medicine, University of Amsterdam, Amsterdam (L.F.R., G.K.H., J.J.P.K.); the Department of Internal Medicine and Surgery, Federico II University, Naples, Italy (P.R.); and the Clinical Lipidology and Rare Lipid Disorders Unit, Department of Medicine, Université de Montréal Community Gene Medicine Center, Lipid Clinic Chicoutimi Hospital and ECOGENE-21 Clinical and Translational Research Center, Chicoutimi, QC, Canada (D.G.).

Background: Homozygous familial hypercholesterolemia is characterized by premature cardiovascular disease caused by markedly elevated levels of low-density lipoprotein (LDL) cholesterol. This disorder is associated with genetic variants that result in virtually absent (null-null) or impaired (non-null) LDL-receptor activity. Loss-of-function variants in the gene encoding angiopoietin-like 3 () are associated with hypolipidemia and protection against atherosclerotic cardiovascular disease. Read More

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Genetics of Hypertriglyceridemia.

Front Endocrinol (Lausanne) 2020 24;11:455. Epub 2020 Jul 24.

Departments of Medicine and Biochemistry, Schulich School of Medicine and Dentistry, Robarts Research Institute, Western University, London, ON, Canada.

Hypertriglyceridemia, a commonly encountered phenotype in cardiovascular and metabolic clinics, is surprisingly complex. A range of genetic variants, from single-nucleotide variants to large-scale copy number variants, can lead to either the severe or mild-to-moderate forms of the disease. At the genetic level, severely elevated triglyceride levels resulting from familial chylomicronemia syndrome (FCS) are caused by homozygous or biallelic loss-of-function variants in , and genes. Read More

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Volanesorsen in the Treatment of Familial Chylomicronemia Syndrome or Hypertriglyceridaemia: Design, Development and Place in Therapy.

Drug Des Devel Ther 2020 6;14:2623-2636. Epub 2020 Jul 6.

Department of Metabolic Medicine/Chemical Pathology, Guy's & St Thomas' Hospitals, London SE1 7EH, UK.

Severe hypertriglyceridaemia is associated with pancreatitis and chronic pancreatitis-induced diabetes. Familial chylomicronaemia syndrome (FCS) is a rare autosomal recessive disorder of lipid metabolism characterised by high levels of triglycerides (TGs) due to failure of chylomicron clearance. It causes repeated episodes of severe abdominal pain, fatigue and attacks of acute pancreatitis. Read More

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Bempedoic Acid: A New Drug for an Old Problem.

Ann Pharmacother 2021 02 16;55(2):246-251. Epub 2020 Jul 16.

University of Houston College of Pharmacy, Houston, TX, USA.

Objective: To review the pharmacology, pharmacokinetics, safety, and efficacy of bempedoic acid for low-density lipoprotein cholesterol (LDL-C) reduction.

Data Sources: A PubMed search was conducted from January 2000 to June 15, 2020, using the keyword for phase III clinical trials published in the English language.

Study Selection And Data Extraction: Articles related to the Food and Drug Administration (FDA) approval of bempedoic acid and other trials relating to the safety and efficacy of this drug were included. Read More

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February 2021

Efficacy and Safety of Alirocumab in Adults With Homozygous Familial Hypercholesterolemia: The ODYSSEY HoFH Trial.

J Am Coll Cardiol 2020 07;76(2):131-142

Icahn School of Medicine at Mount Sinai, New York, New York.

Background: Homozygous familial hypercholesterolemia (HoFH) is characterized by extremely elevated low-density lipoprotein-cholesterol (LDL-C) levels and early onset atherosclerotic cardiovascular disease despite treatment with conventional lipid-lowering treatment.

Objectives: This study was designed to assess LDL-C reduction with the proprotein convertase subtilisin/kexin type 9 inhibitor alirocumab in adult patients with HoFH.

Methods: This randomized, double-blind, placebo-controlled, parallel-group, phase 3 study evaluated efficacy and safety of alirocumab 150 mg every 2 weeks. Read More

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Evaluation of efficacy and safety of antisense inhibition of apolipoprotein C-III with volanesorsen in patients with severe hypertriglyceridemia.

Expert Opin Pharmacother 2020 Oct 10;21(14):1675-1684. Epub 2020 Jul 10.

Department of Translational and Precision Medicine, Sapienza University of Rome , Rome, Italy.

Introduction: Severe hypertriglyceridemia (sHTG) is a complex disorder of lipid metabolism characterized by plasma levels of triglyceride (TG) greater than 885 mg/dl (>10 mmol/L). The treatment of sHTG syndromes is challenging because conventional treatments are often ineffective in reducing TG under the threshold to prevent acute pancreatitis (AP). The inhibition of , which encodes a protein involved in triglyceride (TG)-rich lipoproteins (TGRLs) removal, has been reported to be a novel target for the treatment of sHTG. Read More

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October 2020

A simplified diagnosis algorithm for dysbetalipoproteinemia.

J Clin Lipidol 2020 Jul - Aug;14(4):431-437. Epub 2020 Jun 10.

Genetic Dyslipidemias Clinic of the Montreal Clinical Research Institute, Québec, Canada; Department of Medicine, Divisions of Experimental Medicine and Medical Biochemistry, McGill University, Québec, Canada. Electronic address:

Background: Dysbetalipoproteinemia (DBL) is a disease of remnant lipoprotein accumulation caused by a defective apolipoprotein (apo) E and is associated with a considerable atherogenic burden. However, there exists confusion concerning the diagnosis of this disorder, and as a consequence, misdiagnosis is frequent.

Objective: The objective of the present study is to propose an algorithm for the diagnosis of DBL using simple clinical variables. Read More

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Highlights of Studies in Cardiovascular Disease Prevention Presented at the 2020 American College of Cardiology Annual Scientific Session.

Curr Atheroscler Rep 2020 06 18;22(8):32. Epub 2020 Jun 18.

Section of Cardiology, Baylor College of Medicine, Houston, TX, USA.

Purpose Of Review: The review highlights selected studies related to cardiovascular disease (CVD) prevention that were presented at the American College of Cardiology 2020 Virtual Scientific Session (ACC.20)/World Cardiology Congress (WCC).

Recent Findings: The studies reviewed include clinical trials on the efficacy and safety of alirocumab (Study in Participants with Homozygous Familial Hypercholesterolemia [ODYSSEY HoFH]) and evinacumab in the treatment of homozygous familial hypercholesterolemia (HoFH); Evaluating the Efficacy of E-cigarettes for Smoking Cessation (E3); the use of renal denervation in the treatment of hypertension (SPYRAL HTN-OFF MED PIVOTAL); and the assessment of vericiguat in the treatment of heart failure (A Study of Vericiguat in Participants with Heart Failure with Reduce Ejection Fraction [VICTORIA]). Read More

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Xanthoma striatum palmare and biliary tract atresia: An unusual association.

Pediatr Dermatol 2020 Sep 15;37(5):950-951. Epub 2020 Jun 15.

Department of Dermatology, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.

Cutaneous xanthomas develop as a result of lipid deposition in the dermis and may be a manifestation of various systemic diseases. The morphology and anatomic location of xanthomas are often a clue to the underlying cause. Xanthoma striatum palmare (XSP) is classically associated with dysbetalipoproteinemia and rarely observed in hepatic disorders. Read More

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September 2020

LDL Receptor Regulates the Reverse Transport of Macrophage-Derived Unesterified Cholesterol via Concerted Action of the HDL-LDL Axis: Insight From Mouse Models.

Circ Res 2020 08 4;127(6):778-792. Epub 2020 Jun 4.

From the Institut d'Investigacions Biomèdiques Sant Pau, Barcelona, Spain (L.C., D.S., A.G.-L., S.S.-S., N.R., A.R.-U., K.A.M.-L., M.T., J.J., V.P., A.P., J.L.S.-Q., F.B.-V., J.C.E.-G.).

Rationale: The HDL (high-density lipoprotein)-mediated stimulation of cellular cholesterol efflux initiates macrophage-specific reverse cholesterol transport (m-RCT), which ends in the fecal excretion of macrophage-derived unesterified cholesterol (UC). Early studies established that LDL (low-density lipoprotein) particles could act as efficient intermediate acceptors of cellular-derived UC, thereby preventing the saturation of HDL particles and facilitating their cholesterol efflux capacity. However, the capacity of LDL to act as a plasma cholesterol reservoir and its potential impact in supporting the m-RCT pathway in vivo both remain unknown. Read More

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Regional Variations in Alirocumab Dosing Patterns in Patients with Heterozygous Familial Hypercholesterolemia During an Open-Label Extension Study.

Cardiovasc Drugs Ther 2020 08;34(4):515-523

Lipid Clinic, Point Médical and Department of Cardiology, CHU Dijon-Bourgogne, Dijon, France.

Purpose: During the alirocumab open-label extension study ODYSSEY OLE (open-label extension; NCT01954394), physicians could adjust alirocumab dosing for enrolled patients, who were diagnosed with heterozygous familial hypercholesterolemia (HeFH) and who had completed previous phase III clinical trials with alirocumab. This post hoc analysis evaluated the differences in physician-patient dosing decisions between the regions of Western Europe, Eastern Europe, North America, and the rest of the world (ROW).

Methods: Patients (n = 909) who received starting dose alirocumab 75 mg every 2 weeks (Q2W) during ODYSSEY OLE (patients from FH I, FH II, and LONG TERM parent studies) were included. Read More

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The clinical and laboratory investigation of dysbetalipoproteinemia.

Crit Rev Clin Lab Sci 2020 11 7;57(7):458-469. Epub 2020 Apr 7.

Department of Blood Sciences, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

Familial dysbetalipoproteinemia (type III hyperlipoproteinemia) is a potentially underdiagnosed inherited dyslipidemia associated with greatly increased risk of coronary and peripheral vascular disease. The mixed hyperlipidemia observed in this disorder usually responds well to appropriate medical therapy and lifestyle modification. Although there are characteristic clinical features such as palmar and tuberous xanthomata, associated with dysbetalipoproteinemia, they are not always present, and their absence cannot be used to exclude the disorder. Read More

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November 2020

Dysbetalipoproteinemia is overlooked and dangerous.

Tidsskr Nor Laegeforen 2020 03 25;140(4). Epub 2020 Feb 25.

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The brave new world of genetic testing in the management of the dyslipidaemias.

Curr Opin Cardiol 2020 05;35(3):226-233

Lipid Disorders Clinic, Department of Cardiology, Royal Perth Hospital; School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia.

Purpose Of Review: With the exception of familial hypercholesterolaemia, the value of genetic testing for managing dyslipidaemias is not established. We review the genetics of major dyslipidaemias in context of clinical practice.

Recent Findings: Genetic testing for familial hypercholesterolaemia is valuable to enhance diagnostic precision, cascade testing, risk prediction and the use of new medications. Read More

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