12,924 results match your criteria Hyperlipoproteinemia


The burden of familial chylomicronemia syndrome in Canadian patients.

Lipids Health Dis 2020 Jun 2;19(1):120. Epub 2020 Jun 2.

Lipids, Nutrition and Cardiovascular Prevention Clinic, Montreal Clinical Research Institute, 110 Avenue des Pins Ouest, Montréal, QC, H2W 1R7, Canada.

Background: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder characterized by persistent extreme hypertriglyceridemia as a result of lipoprotein lipase deficiency. Canada is an important region for FCS research due to the high prevalence rates. The burden of illness and quality of life of Canadian patients, however, have been inadequately addressed in the literature. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12944-020-01302-xDOI Listing

Hyperlipidemias in elderly patients: results from the Berlin Aging Study II (BASEII), a cross-sectional study.

Lipids Health Dis 2020 May 14;19(1):92. Epub 2020 May 14.

Department of Endocrinology and Metabolic Diseases (including Lipid Metabolism), Charité Universitätsmedizin Berlin, Berlin, Germany.

Background: Hyperlipidemias are common and the last decades have seen substantially growing evidence of their causative role in the development of atherosclerosis and subsequent cardiovascular diseases. Since hyperlipidemias usually do not cause direct clinical symptoms, they often remain undiagnosed until a serious cardiovascular event occurs. Especially for LDL-hypercholesteremia, there are well-established treatment options available to prevent the occurrence of atherosclerosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12944-020-01277-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7227351PMC

[Lipidology update : Evidence-based treatment of dyslipidemia].

Authors:
K G Parhofer

Internist (Berl) 2020 Jun;61(6):573-586

Medizinische Klinik IV - Großhadern, Klinikum der Universität München, Marchioninistr. 15, 81377, München, Deutschland.

The treatment of elevated plasma lipids plays an important role in atherosclerosis prevention. Low-density lipoprotein (LDL) cholesterol lowering with statins and, if required, additional inhibition is of the utmost importance. Lifestyle modification plays only a minor role in LDL cholesterol lowering. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00108-020-00799-9DOI Listing

[Association of lipoprotein (a) with ischemic stroke and stenotic carotid atherosclerosis].

Zh Nevrol Psikhiatr Im S S Korsakova 2020 ;120(3. Vyp. 2):42-48

National Medical Research Center of Cardiology, Moscow, Russia.

Introduction: Lipoprotein(a) [Lp(a)] is a genetically determined risk factor of coronary heart disease and its complications. Meanwhile data about the role of Lp(a) in development of ischemic stroke are controversial.

Aim: To investigate the association of Lp(a) with atherothrombotic ischemic stroke and stenotic (≥50%) atherosclerosis of carotid arteries. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.17116/jnevro202012003242DOI Listing

A Global Review on the Utility of Genetic Testing for Familial Hypercholesterolemia.

J Pers Med 2020 Apr 14;10(2). Epub 2020 Apr 14.

Department of Population Medicine, Harvard Pilgrim Health Care Institute and Harvard Medical School, Boston, MA 02215, USA.

Familial hypercholesterolemia (FH) is a genetic disorder of cholesterol metabolism that affects an estimated 1/250 persons in the United States and abroad. FH is hallmarked by high low-density lipoprotein (LDL) cholesterol and an increased risk of premature atherosclerotic cardiovascular disease. This review summarizes recent global evidence showing the utility of FH genetic testing across diverse populations. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/jpm10020023DOI Listing

A Novel Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis.

Appl Clin Genet 2020 26;13:63-69. Epub 2020 Mar 26.

Faculty of Health Sciences, Universidad Icesi, Cali 760032, Colombia.

Hypertriglyceridemia is a common disease with only 2% of cases exhibiting monogenic mutations. Familial chylomicronemia syndrome (FCS) is a rare genetic condition associated with recurrent and severe episodes of pancreatitis and is mainly caused by mutations in the LPL gene, with few cases related to abnormal function of apolipoprotein C-II. This is a 50-year-old female with a past medical history of arterial hypertension, miscarriage and recurrent pancreatitis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2147/TACG.S243148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7125404PMC

The clinical and laboratory investigation of dysbetalipoproteinemia.

Crit Rev Clin Lab Sci 2020 Apr 7:1-12. 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/10408363.2020.1745142DOI Listing

Familial hypercholesterolaemia and COVID-19: triggering of increased sustained cardiovascular risk.

J Intern Med 2020 06 22;287(6):746-747. Epub 2020 Apr 22.

Wihuri Research Institute, Helsinki, Finland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/joim.13070DOI Listing

[Familial hypercholesterolemia in children and adolescents].

Rev Prat 2019 Nov;69(9):1001-1004

Service de nutrition et gastroentérologie pédiatrique, hôpital Trousseau, AP-HP, Paris, France.

Familial hypercholesterolemia in children and adolescents. Familial hypercholesterolemia is a common genetic disease. The dominant autosomal heterozygous form is most common in relation to the pathogenic mutation of a single gene responsible for a significant rise in LDL-cholesterol levels in childhood. Read More

View Article

Download full-text PDF

Source
November 2019

[Living with familial hypercholesterolemia].

Rev Prat 2019 Nov;69(9):999-1000

Association nationale de patients touchés par l'hypercholestérolémie familiale.

View Article

Download full-text PDF

Source
November 2019

Relapsing and Progressive Complications of Severe Hypertriglyceridemia: Effective Long-Term Treatment with Double Filtration Plasmapheresis.

Blood Purif 2020 Mar 19:1-11. Epub 2020 Mar 19.

Department of Nephrology, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.

Background: Severe hypertriglyceridemia (HTG) is associated with major complications such as acute or relapsing pancreatitis (AP) and atherosclerotic cardiovascular disease (ASCVD). Rapid elimination of triglyceride (TG)-rich lipoproteins (LP) with double filtration plasmapheresis (DFPP) without need for substitution has been found to be effective for the acute, short-term treatment of HTG-induced AP. Data on the long-term use of DFPP to prevent HTG-associated complications are scarce. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000506506DOI Listing
March 2020
1.920 Impact Factor

The use of high-resolution MRI to detect thrombosis and lipid-rich carotid artery plaques in a patient with homozygous familial hypercholesterolemia.

Rev Assoc Med Bras (1992) 2020 27;66(1):31-35. Epub 2020 Feb 27.

. Department of Radiology , Beijing Anzhen Hospital , Capital Medical University , No. 2 Anzhen Road, Chaoyang District, Beijing 100029, China.

Homozygous familial hypercholesterolemia is a rarely agentic disorder of the lipoprotein metabolism intimately related to premature atherosclerotic cardiovascular disease that can lead to high disability and mortality. Homozygous familial hypercholesterolemia typically affects not only the aortic root, compromising the coronary ostia, but also affects other territories such as the carotid, descending aorta, and renal arteries. Multi-contrast high-resolution magnetic resonance imaging (MRI) provides a validated and useful method to characterize carotid artery atherosclerotic plaques quantitatively. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1590/1806-9282.66.1.31DOI Listing
April 2020
0.915 Impact Factor

[Genotype-phenotype analysis of a homozygous familial hypercholesterolemia pedigree].

Zhonghua Er Ke Za Zhi 2020 Feb;58(2):101-106

Department of Cardiology, Xi'an Children's Hospital, Shaanxi Institute for Pediatric Diseases, Xi'an Key Laboratory of Children's Health and Diseases, Xi'an 710003, China.

To analyze the genetic characteristics of a five generations pedigree with homozygous familial hypercholesterolemia (HoFH). Prospective study. Twenty family members included a proband diagnosed as familial hyperlipidemia at the cardiology Department of Xi'an Children's Hospital in October 2018 were research object. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.0578-1310.2020.02.007DOI Listing
February 2020

Statin therapy in athletes and patients performing regular intense exercise - Position paper from the International Lipid Expert Panel (ILEP).

Pharmacol Res 2020 May 19;155:104719. Epub 2020 Feb 19.

Department of Hypertension, Chair of Nephrology and Hypertension, Medical University of Lodz, Lodz, Poland; Polish Mother's Memorial Hospital Research Institute (PMMHRI), Lodz, Poland; Cardiovascular Research Centre, University of Zielona Gora, Zielona Gora, Poland. Electronic address:

Acute and chronic physical exercises may enhance the development of statin-related myopathy. In this context, the recent (2019) guidelines of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS) for the management of dyslipidemias recommend that, although individuals with dyslipidemia should be advised to engage in regular moderate physical exercise (for at least 30 min daily), physicians should be alerted with regard to myopathy and creatine kinase (CK) elevation in statin-treated sport athletes. However it is worth emphasizing that abovementioned guidelines, previous and recent ESC/EAS consensus papers on adverse effects of statin therapy as well as other previous attempts on this issue, including the ones from the International Lipid Expert Panel (ILEP), give only general recommendations on how to manage patients requiring statin therapy on regular exercises. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.phrs.2020.104719DOI Listing
May 2020
4.408 Impact Factor

Case report of one month and 15 days old baby with type V hyperlipoproteinemia (HLP).

BMC Endocr Disord 2020 Feb 11;20(1):22. Epub 2020 Feb 11.

Department of Pathology, National Institute of Blood disease and Bone Marrow Transplantation (NIBD), ST 2/A Block 17 Gulshan-e-iqbal KDA Scheme 24, Karachi, 74800, Pakistan.

Background: Most of the patients with type 1 and V hyperlipoproteinemia (HLP) present with symptoms and signs of acute pancreatitis due to marked elevation of triglycerides, but this baby presented with a chest infection, which was later diagnosed as type V HLP on laboratory workup.

Case Presentation: We report a case of a 1 month and 15 days old baby boy, product of 2-nd degree consanguinity admitted to a nearby hospital with complaints of refusal to feed, cough and excessive crying. On examination his heart rate was 102 beats/min, respiratory rate was 55 breaths/min and temperature was within the normal range, provisional diagnosis of Pneumonia was made. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12902-020-0502-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7014707PMC
February 2020

[A case of neonatal lipoprotein lipase deficiency caused by novel compound heterozygous variants of LPL gene].

Authors:
Lisha Zhu Guinan Li

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Feb;37(2):156-158

Department of Neonatology, Hunan Provincial Children's Hospital, Changsha, Hunan 410000, China.

Objective: To explore the genetic basis for a Chinese neonate with lipoprotein lipase deficiency.

Methods: Targeted capture and next-generation sequencing (NGS) were carried out to detect variants of genes associated with inborn errors of metabolism. Suspected variants were validated by Sanger sequencing. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.02.014DOI Listing
February 2020

Barriers to Early Diagnosis and Treatment of Familial Hypercholesterolemia: Current Perspectives on Improving Patient Care.

Vasc Health Risk Manag 2020 9;16:11-25. Epub 2020 Jan 9.

Fundación Hipercolesterolemia Familiar, Madrid, Spain.

Familial hypercholesterolemia (FH) is a frequent disorder associated with premature atherosclerotic cardiovascular disease. Different clinical diagnosis criteria are available, and cost of genetic testing has been reduced in the last years; however, most cases are not diagnosed worldwide. Patients with FH are at high cardiovascular risk and the risk can be reduced with lifelong lifestyle and pharmacological treatment. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2147/VHRM.S192401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6957097PMC
February 2020

Increased cardiovascular risk associated with hyperlipoproteinemia (a) and the challenges of current and future therapeutic possibilities.

Authors:
Zlatko Fras

Anatol J Cardiol 2020 Jan;23(2):60-69

Division of Medicine, Centre for Preventive Cardiology, University Medical Centre Ljubljana; Medical Faculty, University of Ljubljana; Ljubljana-Slovenia.

Population, genetic, and clinical studies demonstrated a causative and continuous, from other plasma lipoproteins independent relationship between elevated plasma lipoprotein (a) [Lp(a)] concentration and the development of cardiovascular disease (CVD), mainly those related to athe-rosclerotic CVD, and calcific aortic stenosis. Currently, a strong international consensus is still lacking regarding the single value which would be commonly used to define hyperlipoproteinemia (a). Its prevalence in the general population is estimated to be in the range of 10%-35% in accordance with the most commonly used threshold levels (>30 or >50 mg/dL). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.14744/AnatolJCardiol.2019.56068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7040869PMC
January 2020

Taking One Step Back in Familial Hypercholesterolemia: Does Not Alter Plasma LDL (Low-Density Lipoprotein) Cholesterol in Mice and Humans.

Arterioscler Thromb Vasc Biol 2020 Apr 30;40(4):973-985. Epub 2020 Jan 30.

From the Department of Pediatrics, Molecular Genetics Section (N.L., J.-W.B., A.R., V.B., J.C.W., N.H., M.S., N.K., M.K., B.v.d.S., J.A.K.), University Medical Center Groningen, University of Groningen, the Netherlands.

Objective: , encoding for STAP1 (signal transducing adaptor family member 1), has been reported as a candidate gene associated with familial hypercholesterolemia. Unlike established familial hypercholesterolemia genes, expression of is absent in liver but mainly observed in immune cells. In this study, we set out to validate as a familial hypercholesterolemia gene. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/ATVBAHA.119.313470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7098433PMC

Statins for Familial Hypercholesterolemia from Childhood. Reply.

N Engl J Med 2020 01;382(5):488-489

Amsterdam University Medical Centers, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMc1915311DOI Listing
January 2020

Statins for Familial Hypercholesterolemia from Childhood.

N Engl J Med 2020 01;382(5):488

Medical Governance Research Institute, Tokyo, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMc1915311DOI Listing
January 2020

Statins for Familial Hypercholesterolemia from Childhood.

N Engl J Med 2020 01;382(5):487-488

Japan Institute of Pharmacovigilance, Osaka, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMc1915311DOI Listing
January 2020

Triglycerides, hypertension, and smoking predict cardiovascular disease in dysbetalipoproteinemia.

J Clin Lipidol 2020 Jan - Feb;14(1):46-52. Epub 2019 Dec 24.

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

Background: Dysbetalipoproteinemia (DBL) is an autosomal recessive lipid disorder associated with a reduced clearance of remnant lipoproteins and is associated with an increased cardiovascular disease (CVD) risk. The genetic cause of DBL is apoE2 homozygosity in 90% of cases. However, a second metabolic hit must be present to precipitate the disease. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacl.2019.12.006DOI Listing
December 2019

The development of a theory informed behaviour change intervention to improve adherence to dietary and physical activity treatment guidelines in individuals with familial hypercholesterolaemia (FH).

BMC Health Serv Res 2020 Jan 8;20(1):27. Epub 2020 Jan 8.

NIHR Bristol Biomedical Research Centre (Nutrition Theme), University Hospitals Bristol NHS Foundation Trust and the University of Bristol, Bristol, UK.

Background: Familial hypercholesterolaemia (FH) is a genetic condition characterised by elevated levels of low-density lipoprotein cholesterol (LDL-C) and an increased risk of cardiovascular disease (CVD). Following dietary and physical activity guidelines could help minimise this risk but adherence is low. Interventions to target these behaviours are therefore required. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12913-019-4869-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950899PMC
January 2020

Current and future trends in the treatment of dyslipidemias.

Authors:
Michal Vrablík

Vnitr Lek 2019 ;65(10):643-650

Lipid-lowering treatment is a part of prevention and treatment of vascular diseases caused by atherosclerosis. We need new strategies for modifying plasma lipoprotein levels in the light of new findings that reduce target lipid levels further lower, as well as the growing population of patients for whom existing treatments cannot be offered. The spectrum of existing drugs (new statins) is widening, pharmacological treatments (recombinant lipoproteins-bound statins), improved forms of established drugs (selective PPARα receptor modulators) are coming. Read More

View Article

Download full-text PDF

Source
January 2020

Volanesorsen, Familial Chylomicronemia Syndrome, and Thrombocytopenia. Reply.

N Engl J Med 2019 12;381(26):2584

Akcea Therapeutics, Cambridge, MA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMc1912350DOI Listing
December 2019

Volanesorsen, Familial Chylomicronemia Syndrome, and Thrombocytopenia.

N Engl J Med 2019 12;381(26):2582-2584

Massachusetts General Hospital, Boston, MA

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMc1912350DOI Listing
December 2019

Apolipoprotein E-related glomerular disorders.

Kidney Int 2020 Feb 22;97(2):279-288. Epub 2019 Nov 22.

Division of Nephrology and Dialysis, Kitano Hospital, Osaka, Japan; Department of Food and Nutrition, Faculty of Contemporary Home Economics, Kyoto Kacho University, Kyoto, Japan.

Of the glomerular disorders that occur due to apolipoprotein E (apoE) mutations, apoE2 homozygote glomerulopathy and lipoprotein glomerulopathy (LPG) have been characterized. ApoE2 homozygote glomerulopathy has been found in individuals expressing homozygous apoE2/2. This was characterized histologically by glomerulosclerosis with marked infiltration of foam cells derived from macrophages, and occasionally with non-lamellated lipoprotein thrombi. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.kint.2019.10.031DOI Listing
February 2020

Lipoprotein apheresis in Austria - Reduction of cardiovascular events by regular lipoprotein apheresis treatment.

Atheroscler Suppl 2019 Dec 17;40:8-11. Epub 2019 Aug 17.

Athos Institute, Institute for Diagnosis and Treatment of Lipid Disorders and Atherosclerosis, Vienna, Austria; Sigmund Freud University, Department of Lipid Metabolism, Faculty of Medicine, Vienna, Austria.

Background: In Austria, about 12 patients per 1 million inhabitants are treated currently with lipoprotein (LP-) apheresis. In 2016 it has been suggested, that about 5000 patients were treated worldwide with LP-apheresis, more than half of them in Germany. Regular LP-apheresis aims to decrease apolipoprotein B-rich lipoproteins and to reduce cardiovascular events. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosissup.2019.08.025DOI Listing
December 2019

Efficiency and problems of statin therapy in patients with heterozygous familial hypercholesterolemia.

Atheroscler Suppl 2019 Dec 17;40:79-87. Epub 2019 Aug 17.

Lipidology and Lipoprotein Apheresis Center, Department of Internal Medicine III, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Fetscherstr. 74, 01307, Dresden, Germany.

Familial hypercholesterolemia (FH) is associated with a very high risk of cardiovascular complications and the need for an early aggressive lipid-lowering therapy. The achievement of lipid target levels is often an extremely difficult task in these patients.

Aims: to analyze sex and age structure of ischemic heart disease (IHD) in patients with a definite, possible and probable FH. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosissup.2019.08.029DOI Listing
December 2019

Optical coherence tomography of retinal and choroidal layers in patients with familial hypercholesterolaemia treated with lipoprotein apheresis.

Atheroscler Suppl 2019 Dec;40:49-54

Department of Sense Organs, Faculty of Medicine and Dentistry, Sapienza University of Rome, Italy. Electronic address:

Purpose: Detect and quantify morpho-functional alterations of the retina and choroid in patients affected by familial hypercholesterolemia (FH) treated with lipoprotein apheresis (LA) using optic coherence tomography (OCT) and optic coherence tomography-angriography (OCTA).

Design: Observational study.

Subjects: To be diagnosed: A group of 20 patients (40 eyes) being clinically and genetically diagnosed as FH and under treatment (FH-Group)", for at least 2 years, was compared to a control group of 20 healthy subjects (40 eyes), with a normal lipid profile and no ocular disease (CT-Group). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosissup.2019.08.031DOI Listing
December 2019

Experience with proprotein convertase subtilisin/kexine type 9 inhibitors (PCSK9i) in patients undergoing lipoprotein apheresis.

Atheroscler Suppl 2019 Dec;40:38-43

Lipidology, Department of Internal Medicine III, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Fetscherstr. 74, 01307, Dresden, Germany.

Purpose: We analyzed efficacy and safety of PCSK9i in patients undergoing lipoprotein apheresis (LA) and in patients treated at our outpatient department for metabolic disorders.

Methods: The medical records of 40 LA patients, taking PCSK9i were reviewed with respect to LDL-cholesterol (LDL-C) and lipoprotein(a) (Lp(a)) lowering as well as occurrence of adverse events. Furthermore, we analyzed the data of 152 patients of our outpatient department, undergoing PCSK9i therapy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosissup.2019.08.045DOI Listing
December 2019

Lipoprotein apheresis in Germany - Still more commonly indicated than implemented. How can patients in need access therapy?

Atheroscler Suppl 2019 Dec;40:23-29

Department of Internal Medicine III, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Dresden, Germany.

Background: Although lipid-lowering drugs, especially statins, and recently also PCSK9 inhibitors can reduce LDL cholesterol (LDL-C) and decrease the risk for cardiovascular disease (CVD) including coronary artery disease (CAD) events most efficiently, only 5-10% of high-risk cardiovascular patients reach the target values recommended by international guidelines. In patients who cannot be treated adequately by drugs it is possible to reduce increased LDL-C and/or lipoprotein(a) (Lp(a)) values by the use of lipoprotein apheresis (LA) with the potential to decrease severe CVD events in the range of 70%->80%. Even in Germany, a country with well-established reimbursement guidelines for LA, knowledge about this life-saving therapy is unsatisfactory in medical disciplines treating patients with CVD. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosissup.2019.08.038DOI Listing
December 2019

Lipoprotein apheresis - Shortening of treatment intervals reduces cardiovascular events: Case reports.

Atheroscler Suppl 2019 Dec 17;40:125-130. Epub 2019 Aug 17.

Athos Institute, Institute for Diagnosis and Treatment of Lipid Disorders, Vienna, Austria; Sigmund Freud University, Department of Lipid Metabolism, Faculty of Medicine, Vienna, Austria.

Background: Lipoprotein (Lp-) apheresis is a life-long therapy, usually performed in weekly intervals. In some cases, however, atherosclerotic disease progresses despite adequate therapy with weekly Lp-apheresis and maximal lipid lowering medication. In an attempt to improve the effectiveness of therapy, we temporarily shortened treatment intervals of Lp-apheresis in patients with elevated lipoprotein(a) (Lp(a)) and further progression of coronary atherosclerosis despite weekly Lp-apheresis and maximal lipid lowering medication. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosissup.2019.08.024DOI Listing
December 2019

Homozygous familial hypercholesterolaemia in childhood - The first case report in Southeast Europe.

Atheroscler Suppl 2019 Dec 17;40:122-124. Epub 2019 Aug 17.

Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, Kosovo.

Homozygous familial hypercholesterolaemia (HoFH) is the rare, severe, but treatable disease characterised by exceedingly high levels of low-density lipoprotein cholesterol (LDL-C) and subsequent premature coronary heart disease. Of note, HoFH detection rate and patient access to healthcare and treatment modalities still differ considerably across EU countries. To our current knowledge, there are still no published reports describing HoFH in the paediatric population of Southeastern Europe. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosissup.2019.08.034DOI Listing
December 2019

Influence of lipoprotein apheresis on circulating plasma levels of miRNAs in patients with high Lp(a).

Atheroscler Suppl 2019 Dec;40:12-16

Centre for Experimental Medicine - Laboratory for Atherosclerosis Research, Institute for Clinical and Experimental Medicine, Czech Republic; Department of Internal Medicine, 2nd Medical Faculty, Charles University, Prague, Czech Republic.

Background: Lipoprotein apheresis (LA) is a well-established therapy for lowering lipid levels in serious cases of dyslipidaemia, including high levels of lipoprotein(a) [Lp(a)]. This method lowers both LDL cholesterol and Lp(a) by more than 60% in most of patients; however, because randomized clinical studies could be extremely difficult, also other markers of the effect of this procedures on vascular health are of importance. Therefore, in addition to changes in plasma lipids and Lp(a) during LA, we also analysed the response of biomarkers associated with vascular integrity: small non-coding microRNAs (miRNAs). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosissup.2019.08.036DOI Listing
December 2019

A complicated pregnancy in homozygous familial hypercholesterolaemia treated with lipoprotein apheresis: A case report.

Atheroscler Suppl 2019 Dec 17;40:113-116. Epub 2019 Aug 17.

Extracorporeal Therapeutic Techniques Unit, Lipid Clinic and Atherosclerosis Prevention Centre, Immunohaematology and Transfusion Medicine, Department of Molecular Medicine, "Sapienza" University of Rome, "Umberto I" Hospital, Rome, Italy.

Background And Aims: During pregnancy total cholesterol (TC) and low density lipoprotein cholesterol (LDL-C) levels increase significantly and lipoprotein apheresis (LA) is considered the most effective therapy in homozygous familial hypercholesterolaemia (HoFH) for modulating lipid and lipoprotein levels and reducing maternal and foetal complications.

Clinical Case: A primigravida 28 years old Caucasian female patient, previously diagnosed as to be HoFH, was admitted at our outpatient service at the beginning of pregnancy.

Methods: The patient was continuously submitted to LA every two weeks without foetal complication. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosissup.2019.08.033DOI Listing
December 2019

Actual situation of lipoprotein apheresis in patients with elevated lipoprotein(a) levels.

Atheroscler Suppl 2019 Dec;40:1-7

Lipidology and Center for Extracorporeal Treatment, Department of Internal Medicine III, University Hospital Carl Gustav Carus at the Technische Universität Dresden, Germany, Fetscherstr. 74, 01307, Dresden, Germany.

An elevation of lipoprotein(a) (Lp(a)) is an internationally recognized atherogenic risk factor, documented in epidemiological studies, in studies with Mendelian randomization and in genome-wide association studies (GWAS). At present, no drug is available to effectively reduce its concentration. In Germany, an elevation of Lp(a) associated with progressive cardiovascular diseases is officially recognized as an indication for a lipoprotein apheresis (LA). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosissup.2019.08.043DOI Listing
December 2019

Differentiating Familial Chylomicronemia Syndrome From Multifactorial Severe Hypertriglyceridemia by Clinical Profiles.

J Endocr Soc 2019 Dec 11;3(12):2397-2410. Epub 2019 Oct 11.

Department of Medicine, Université de Montréal and ECOGENE 21, Chicoutimi, Quebec, Canada.

Context: Differentiation between familial chylomicronemia syndrome (FCS, type 1 hyperlipoproteinemia), a rare metabolic disorder, and the more common multifactorial severe hypertriglyceridemia (sHTG, type 5 hyperlipoproteinemia) is challenging because of their overlapping symptoms but important in patient management.

Objective: To assess whether readily obtainable clinical information beyond triglycerides can effectively diagnose and differentiate patients with FCS from those with sHTG, based on well-curated data from two intervention studies of these conditions.

Methods: The analysis included 154 patients from two phase 3 clinical trials of patients with sHTG, one cohort with genetically confirmed FCS (n = 49) and one with multifactorial sHTG (n = 105). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/js.2019-00214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6864364PMC
December 2019

Familial hypercholesterolaemia workshop for leveraging point-of-care testing and personalised medicine in association with the Lipid and Atherosclerosis Society of Southern Africa.

Cardiovasc J Afr 2019 Sep/Oct;30(5):297-304

Centre for Cardiovascular Genetics, Institute of Cardiovascular Science, University College London, London, United Kingdom.

Familial hypercholesterolaemia (FH) is a common autosomal dominantly inherited disorder in which impaired clearance of plasma low-density lipoprotein cholesterol causes premature atherosclerotic vascular disease and tendon xanthomata. This workshop aimed to consolidate information on the diagnosis and management of FH in South Africa. The genetic causes include mutations in the LDL receptor, apolipoprotein B100 and proprotein convertase subtilisin/kexin type 9 (PCSK9). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5830/CVJA-2019-055DOI Listing

Familial hypercholesterolaemia and its management in South Africa.

Authors:
A D Marais

Cardiovasc J Afr 2019 Sep/Oct;30(5):247-248

Chemical Pathology, Health Sciences, University of Cape Town, Observatory, South Africa. Email:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5830/CVJA-2019-054DOI Listing

Lomitapide and Mipomersen-Inhibiting Microsomal Triglyceride Transfer Protein (MTP) and apoB100 Synthesis.

Curr Atheroscler Rep 2019 11 19;21(12):48. Epub 2019 Nov 19.

Division of Chemical Pathology, University of Cape Town Health Science Faculty, Cape Town, South Africa.

Purpose Of Review: The goal of this review is to evaluate the role of inhibiting the synthesis of lipoproteins when there is no or little residual LDL-receptor function as in patients with homozygous familial hypercholesterolaemia. Lomitapide is administered orally once a day while mipomersen is given by subcutaneous injection once a week. Lomitapide inhibits microsomal triglyceride transfer protein while mipomersen is an antisense oligonucleotide directed against apoB100. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11883-019-0809-3DOI Listing
November 2019

Autosomal recessive hypercholesterolemia: Case report.

J Clin Lipidol 2019 Nov - Dec;13(6):887-893. Epub 2019 Sep 23.

Department of Experimental, Preventive, and Clinical Medicine, State Research Institute, Center for Innovative Medicine, Vilnius, Lithuania.

Introduction: Autosomal recessive hypercholesterolemia (ARH; OMIM #603813) is a very rare monogenic disorder affecting less than 1 in 1000,000 people and is characterized by very high levels of low-density lipoprotein cholesterol (LDL-C), leading to aggressive and premature atherosclerotic cardiovascular disease if left untreated. Lowering of LDL-C is the main target of the treatment. We report on a 29-year-old male patient born in nonconsanguineous Lithuanian family homo(hemi-)zygous for LDLRAP1 gene variant causing ARH. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jacl.2019.09.009DOI Listing
September 2019

Cascade screening for familial hypercholesterolemia-identification of the C308Y mutation in multiple family members and relatives for the first time in mainland China.

BMC Med Genet 2019 11 9;20(1):173. Epub 2019 Nov 9.

Division of Cardiology, Keenan Research Center for Biomedical Science, St. Michael's Hospital, University of Toronto, Toronto, Ontario, Canada.

Background: Familial hypercholesterolemia (FH), an autosomal dominant genetic disorder, is underdiagnosed and undertreated. The majority of FH cases are caused by low density lipoprotein receptor (LDL-R) gene mutations. The C308Y mutation in LDL-R results in approximately 70% loss of LDL-R activity, leading to the elevation of low density lipoprotein-cholesterol (LDL-C) and an increased risk of premature coronary heart disease (CHD). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12881-019-0901-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6842482PMC
November 2019

Cardiovascular risk factor profiles in familial hypercholesterolemia patients with and without genetic mutation compared to a nationally representative sample of adults in a high-risk European country.

Am Heart J 2019 12 23;218:32-45. Epub 2019 Oct 23.

DCRI, Duke University School of Medicine, Durham, NC, USA.

Background: There is a paucity of data on the distribution of cardiovascular risk factors in patients with familial hypercholesterolemia (FH) as compared to the general population. The aim of the study was to compare cardiovascular risk factors in a cohort of FH patients to the representative sample of adults in Poland who represent a high-cardiovascular risk European region.

Methods: We compared the distribution of risk factors in 1,382 individuals with FH phenotype referred for genetic testing between 2006 and 2014 to the National Centre of Familial Hypercholesterolemia in Gdansk, Poland. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ahj.2019.09.007DOI Listing
December 2019

Rapid Regression of Multiple-Site Xanthomas in an Adult With Homozygous Familial Hypercholesterolemia by Triple Lipid-Lowering Drugs.

Am J Ther 2019 Nov/Dec;26(6):e775-e777

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MJT.0000000000000868DOI Listing

Statins for children with familial hypercholesterolemia.

Cochrane Database Syst Rev 2019 11 7;2019(11). Epub 2019 Nov 7.

Royal Free Hospital, Lysosomal Unit, London, UK.

Background: Familial hypercholesterolemia is one of the most common inherited metabolic diseases and is an autosomal dominant disorder meaning heterozygotes, or carriers, are affected. Those who are homozygous have severe disease. The average worldwide prevalence of heterozygous familial hypercholesterolemia is at least 1 in 500, although recent genetic epidemiological data from Denmark and next generation sequencing data suggest the frequency may be closer to 1 in 250. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/14651858.CD006401.pub5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6836374PMC
November 2019

Differences in phenotype, genotype and cardiovascular events between patients with probable and definite heterozygous familial hypercholesterolemia.

Per Med 2019 11 6;16(6):467-478. Epub 2019 Nov 6.

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.

To investigated the potential differences between probable and definite heterozygous familial hypercholesterolemia (HeFH) patients diagnosed by Dutch Lipid Clinic Network criteria. Clinical characteristics, lipid profile, severity of coronary artery stenosis and gene mutations were compared. Kaplan-Meier curve was performed to evaluate the cardiovascular events. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2217/pme-2018-0135DOI Listing
November 2019
1 Read