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Front Med (Lausanne) 2022 6;9:905007. Epub 2022 May 6.

Renal Division, Peking University First Hospital, Beijing, China.

More than 200 cases of lipoprotein glomerulopathy (LPG) have been reported since it was first discovered 30 years ago. Although relatively rare, LPG is clinically an important cause of nephrotic syndrome and end-stage renal disease. Mutations in the gene are the leading cause of LPG. Read More

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

Am J Cardiol 2022 Jul 26;174:1-11. Epub 2022 Apr 26.

Department of Primary Care and Public Health, Imperial College London, London, United Kingdom.

Limited data exist on the long-term safety and efficacy of bempedoic acid, an adenosine triphosphate-citrate lyase inhibitor, for lowering low-density lipoprotein cholesterol (LDL-C). This 78-week, phase 3, open-label extension (OLE) study followed the CLEAR Harmony phase 3 study, in which patients were randomized 2:1 to bempedoic acid or placebo for 52 weeks; during the OLE, patients who received bempedoic acid continued treatment (≤130 weeks) and patients who received placebo initiated bempedoic acid (≤78 weeks). Safety assessments included treatment-emergent adverse events, adverse events of special interest, and clinical laboratory abnormalities. Read More

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

Curr Atheroscler Rep 2022 Jun 30;24(6):399-405. Epub 2022 Mar 30.

Laboratoire Inserm, UMR 1188 DéTROI, Université de La Réunion, 2 Rue Maxime Rivière, 97490, Sainte Clotilde, France.

Purpose Of Review: Lipoprotein (a) [Lp(a)] is a highly atherogenic lipoprotein species. A unique feature of Lp(a) is the strong genetic determination of its concentration. The LPA gene is responsible for up to 90% of the variance in Lp(a), but other genes also have an impact. Read More

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

J Clin Endocrinol Metab 2022 05;107(6):1686-1697

Division of Metabolism, Endocrinology and Nutrition, University of Washington, Seattle WA, USA.

Hypertriglyceridemia is a common lipid disorder encountered in clinical practice. Plasma triglycerides are a marker for the concentration of triglycerides carried in chylomicrons and very low-density lipoprotein particles. A fasting triglyceride level <150 mg/dL is accepted widely as the upper limit of normal range. Read More

Lab Med 2022 Jan 18. Epub 2022 Jan 18.

Veterans Affairs Medical Center, Mather, California, United States.

The polygenic variety of chylomicronemia occurs in adults in whom factors such as obesity, diabetes, alcoholism, renal disease, and certain drugs can precipitate chylomicronemia. A rare cause of polygenic chylomicronemia is hyperlipoproteinemia type 3 (HLP3). We report on a 54-year-old male who presented with chylomicronemia with triglycerides (TG) >2000 mg/dL. Read More

Lipids Health Dis 2021 Nov 27;20(1):170. Epub 2021 Nov 27.

Lipoprotein Metabolism Laboratory, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, 10 Center Drive, Bldg. 10/Rm. 2C433, Bethesda, MD, 20892, USA.

Background: Dyslipoproteinemias can be classified by their distinct lipoprotein patterns, which helps determine atherosclerotic cardiovascular disease (ASCVD) risk and directs lipid management but this has required advanced laboratory testing.

Objective: To develop a new algorithm for classifying lipoprotein disorders that only relies on the standard lipid panel.

Methods: Lipid thresholds for defining the different lipoprotein phenotypes were derived for Non-High-Density Lipoprotein-Cholesterol (NonHDL-C) and Triglycerides (TG) to be concordant when possible with the current US Multi-Society guidelines for blood cholesterol management. Read More

Heart Fail Clin 2022 Jan 22;18(1):177-188. Epub 2021 Oct 22.

Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Naples, Italy; Division of Cardiology, A.O.R.N. "Sant'Anna e San Sebastiano", Edificio C - Cardiologia Universitaria, Via Ferdinando Palasciano 1, Caserta 81100, Italy. Electronic address:

Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder. The most common cause is a mutation in both alleles of the gene encoding for the low-density lipoprotein (LDL) receptor, although other causative mutations have been identified. Complications of atherosclerotic cardiovascular disease are common in these patients; therefore, reducing the elevated LDL-cholesterol burden is critical in their management. Read More

J Atheroscler Thromb 2022 Jun 22;29(6):953-969. Epub 2021 Oct 22.

Division of Endocrinology and Metabolism, Department of Internal Medicine, School of Medicine, Jichi Medical University.

Introduction: Primary dyslipidemias are inherited disorders in plasma lipoprotein metabolism that lead to serious cardiovascular and other complications. The Japanese Ministry of Health, Labor and Welfare (MHLW) covers medical expenses, under the Research Program on Rare and Intractable Diseases, for homozygous familial hypercholesterolemia (FH), familial chylomicronemia, sitosterolemia, cerebrotendinous xanthomatosis, lecithin:cholesterol acyltransferase deficiency, Tangier disease, and abetalipoproteinemia. Apolipoprotein A1 deficiency, heterozygous FH, and type III hyperlipoproteinemia are covered by the MHLW Pediatric Chronic Disease Program. Read More

Medicine (Baltimore) 2021 Oct;100(42):e27573

Klinik und Poliklinik für Kardiologie, Universitätsklinikum Leipzig, Leipzig, Germany.

Rationale: Familial chylomicronemia syndrome is a congenital, severe form of hypertriglyceridemia associated with increased risk of acute pancreatitis. Treatment options are limited.

Patient Concerns: A 52-year-old woman was referred with recurrent pancreatitis and severe hypertriglyceridemia to our lipid clinic. Read More

Transfus Apher Sci 2021 Dec 20;60(6):103258. Epub 2021 Aug 20.

Lipoapheresis Unit - Reference Center for Diagnosis and Treatment of Inherited Dyslipidemias, Fondazione Toscana "Gabriele Monasterio", Via Moruzzi 1, Pisa, 56124, Italy.

Despite advance in pharmacotherapy of lipid disorders, many heterozygous Familial Hypercholesterolemia patients do not achieve a desirable lipid target to significantly reduce the risk of atherosclerotic cardiovascular disease. The aim of the present work is to evaluate the interaction between Lipoprotein apheresis (LA) and PCSK9i in a small FH cohort in which the guidelines therapeutic target is not achieved. During one year, together with a complete adherence to PCSK9i therapy, we recorded a 3 to 5 LA sessions less per year in each patient. Read More

Isr Med Assoc J 2021 Oct;23(10):665-669

Department of Internal Medicine C, Meir Medical Center, Kfar Saba, Israel.

Background: An arginine-rich apolipoprotein was discovered 50 years ago and became known as apolipoprotein E (ApoE) 10 years later. ApoE is associated with triglyceride-rich lipoproteins and mediates the clearance of these lipoproteins from the plasma. The ApoE-deficient hypercholesterolemic mice are an excellent platform for experimental atherosclerosis because they are similar to human pathology with regard to an atherogenic diet. Read More

Clin Biochem 2022 Jan 14;99:60-68. Epub 2021 Oct 14.

Department of Laboratory Medicine & Pathobiology, University of Toronto, Toronto, ON, Canada; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, ON, Canada; Department of Laboratory Medicine, St. Michael's Hospital, Toronto, ON, Canada. Electronic address:

Background: Guideline recommendations for the management of lipids in patients at risk for cardiovascular disease is largely based on low-density lipoprotein cholesterol (LDL-C) concentration. LDL-C is commonly calculated by the Friedewald equation, which has many limitations. The National Institutes of Health (NIH) equation better estimates LDL-C, particularly in patients with hypertriglyceridemia and/or low LDL-C. Read More

SAGE Open Med Case Rep 2021 28;9:2050313X211034923. Epub 2021 Sep 28.

Department of Dermatology, School of Medicine, Eulji University Hospital, Eulji University, Daejeon, Korea.

Xanthomas are plaques or nodules consisting of an accumulation of excess lipids, resulting in the formation of foam cells in the skin or tendons. Typically, xanthomas are not accompanied by other symptoms. Here, we report a patient with a presentation of painful palmar xanthomas and subsequent diagnosis of metabolic and cardiovascular morbidities. Read More

J Clin Endocrinol Metab 2022 01;107(2):538-548

Genetic Dyslipidemias Clinic of the Montreal Clinical Research Institute, Québec, Canada.

Context: Dysbetalipoproteinemia (DBL) is characterized by the accumulation of remnant lipoprotein particles and associated with an increased risk of cardiovascular and peripheral vascular disease (PVD). DBL is thought to be mainly caused by the presence of an E2/E2 genotype of the apolipoprotein E (APOE) gene, in addition to environmental factors. However, there exists considerable phenotypic variability among DBL patients. Read More

Int J Mol Sci 2021 Jul 31;22(15). Epub 2021 Jul 31.

Center for Molecular and Translational Medicine, Georgia State University, Atlanta, GA 30303, USA.

Apolipoprotein E (ApoE), an essential plasma apolipoprotein, has three isoforms (E2, E3, and E4) in humans. E2 is associated with type III hyperlipoproteinemia. E4 is the major susceptibility gene to Alzheimer's disease (AD) and coronary heart disease (CHD). Read More

JACC Cardiovasc Imaging 2021 12 14;14(12):2414-2424. Epub 2021 Jul 14.

Aix Marseille University, INSERM, Institut National de Recherche pour l'agriculture, l'Alimentation et l'Environnement, C2VN, Marseille, France; Department of Nutrition, Metabolic Diseases, Endocrinology, La Conception Hospital, Marseille, France.

Objectives: This study aimed at investigating the additional contribution of coronary artery calcium (CAC) score to SAFEHEART (Spanish Familial Hypercholesterolemia Cohort Study) risk equation (SAFEHEART-RE) for cardiovascular risk prediction in heterozygous familial hypercholesterolemia (HeFH).

Background: Common cardiovascular risk equations are imprecise for HeFH. Because of the high phenotype variability of HeFH, CAC score could help to better stratify the risk of atherosclerotic cardiovascular disease (ASCVD). Read More

Expert Rev Cardiovasc Ther 2021 Aug 27;19(8):685-693. Epub 2021 Jul 27.

Departments of Medicine, Medicine and Dentistry, Western University, London, Canada.

Introduction: Familial chylomicronemia syndrome (FCS) is a rare subtype of severe hypertriglyceridemia that affects ~1 in 100, 000 to 1,000,000 individuals. The major risk to health is acute pancreatitis. FCS is defined by biallelic loss-of-function mutations in one of five canonical genes that encode proteins critical to lipolysis of large triglyceride-rich lipoprotein particles. Read More

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

Atherosclerosis 2021 07 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

Clin Chim Acta 2021 Sep 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

Drug Des Devel Ther 2021 10;15:1955-1963. Epub 2021 May 10.

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

Bempedoic acid is a first-in-class, oral, inhibitor of cholesterol biosynthesis that is approved for use in patients with atherosclerotic cardiovascular disease (ASCVD) and for primary prevention in individuals with heterozygous familial hypercholesterolemia (HeFH) by the United States Food and Drug Administration. Pooled data from the phase III clinical trials, CLEAR Harmony and CLEAR Wisdom, have demonstrated the safety and efficacy of bempedoic acid with regard to lowering of low-density lipoprotein cholesterol (LDL-C) in patients with HeFH as an adjunct or alternative to currently existing lipid-lowering therapies. CLEAR Outcomes is a cardiovascular outcomes trial that is currently underway that will provide additional insight as to where bempedoic acid will fit into treatment regimens among the non-statin lipid-lowering therapy options. Read More

Clin Investig Arterioscler 2021 May;33 Suppl 2:75-79

Unidad de Lípidos, Servicio de Medicina Interna, Hospital Virgen de la Victoria, Málaga, España; Departamento de Medicina y Dermatología, Universidad de Málaga, Málaga, España; Instituto de Investigación Biomédica de Málaga, Málaga, España.

Fasting chylomicronaemia appears in type V (multifactorial chylomicronaemia syndrome, MCS), and in type I (familial chylomicronaemia syndrome, FCS). MCS needs to be treated as in any general hypertriglyceridaemia: low-calorie diet, avoid sugar and alcohol, reduce body weight, control of diabetes and, in some cases, common lipid lowering-drugs, such as fibrates or omega-3 fatty acids. For type I HLP, FCS, patients should adhere to a strict very low fat diet, usually less than 15-20 g per day. Read More

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

Clin Investig Arterioscler 2021 May;33 Suppl 2:37-42

Unidad de Lípidos y Riesgo Vascular, Hospital Carlos III, Madrid, España.

For decades, familial hypertriglyceridemia (HTG) has been considered a specific entity characterized by an increase in VLDL particles and an autosomal dominant inheritance pattern. In the genomics era, it has been proven that familial HTG, although it could be grouped in families, had a polygenic inheritance in which the phenotype would be determined by concomitant environmental factors. Hence its inclusion in the group of polygenic HTGs. Read More

Curr Atheroscler Rep 2021 05 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

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

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