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3. Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia

Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia: Update 2018 - Canadian Journal of Cardiology Email/Username: Password: Remember me Search Terms Search within Search Share this page Volume 34, Issue 12, Pages 1553–1563 Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia: Update 2018 Primary Panel:, x Liam R. Brunham Affiliations Department (...) , Dalhousie University, St John, New Brunswick, Canada , MD x , x James Brophy Affiliations Research Institute of the McGill University Health Centre, Royal Victoria Hospital, Montréal, Quebec, Canada Department of Medicine, McGill University, Montréal, Quebec, Canada , MD, PhD c , d DOI: | Figures Figure 1 Canadian definition for the clinical diagnosis of familial hypercholesterolemia (FH). ASCVD, atherosclerotic cardiovascular disease; LDL-C, low-density lipoprotein cholesterol. * Secondary causes

2019 Canadian Cardiovascular Society

4. Statins for children with familial hypercholesterolemia. (PubMed)

Statins for children with familial hypercholesterolemia. 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. Diagnosis of familial hypercholesterolemia in children is based on elevated total cholesterol and low-density lipoprotein cholesterol levels or DNA-based analysis, or both. Coronary atherosclerosis has been detected in men with heterozygous familial hypercholesterolemia as young as 17 years old and in women with heterozygous familial hypercholesterolemia at 25 years old. Since the clinical complications of atherosclerosis occur prematurely, especially in men, lifelong treatment

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2017 Cochrane

5. Genetically confirmed familial hypercholesterolemia in outpatients with hypercholesterolemia (PubMed)

Genetically confirmed familial hypercholesterolemia in outpatients with hypercholesterolemia Familial hypercholesterolemia (FH) is an autosomal dominant disorder of lipoprotein metabolism which can lead to premature coronary heart disease (pCHD). There are about 3.8 million potential FH patients in China, whereas the clinical and genetic data of FH are limited.Dutch Lipid Clinic Network (DLCN) criteria was used to diagnose FH in outpatients with hypercholesterolemia. Resequencing chip analysis (...) combined with Sanger sequencing validation were used to identify mutations in the definite FH patients according to DLCN criteria. In silico analysis was conducted in mutations with previously unknown pathogenicity. Then, the novel mutant receptors were transfected into human embryo kidney 293 (HEK-293) cells. The binding and the internalization activities of the mutant receptors were analyzed by flow cytometry.The prevalence of definite FH in outpatients with hypercholesterolemia in this study is 3.2

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2018 Journal of geriatric cardiology : JGC

6. Characteristics and management of 1093 patients with clinical diagnosis of familial hypercholesterolemia in Greece: Data from the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH). (PubMed)

Characteristics and management of 1093 patients with clinical diagnosis of familial hypercholesterolemia in Greece: Data from the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH). Although familial hypercholesterolemia (FH) is one of the most common genetic disorders, it remains largely underdiagnosed and undertreated. The Hellenic Atherosclerosis Society has established the Hellenic Familial Hypercholesterolemia (HELLAS-FH) Registry, part of the Familial Hypercholesterolemia Studies

2018 Atherosclerosis

7. High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry. (PubMed)

High burden of recurrent cardiovascular events in heterozygous familial hypercholesterolemia: The French Familial Hypercholesterolemia Registry. Cardiovascular risk is high in heterozygous familial hypercholesterolemia (HeFH). The objective of this study was to describe recurrent cardiovascular events in selected patients with HeFH attending lipid clinics in France.We included 781 patients with a clinical (Dutch Lipid Clinic Network score ≥ 6) or genetic diagnosis of HeFH who had experienced (...) a first cardiovascular event (myocardial infarction, percutaneous coronary intervention or coronary bypass, unstable angina, stroke, peripheral arterial revascularization or cardiovascular death) and were enrolled in the French Familial Hypercholesterolemia Registry (November 2015 to March 2018).The first cardiovascular event occurred at the mean age of 47 years (interquartile range 39-55) in a predominantly male population (72%); 48% of patients were on statin therapy. Overall, 37% of patients had

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2018 Atherosclerosis

8. Risk of Ischemic Stroke and Total Cerebrovascular Disease in Familial Hypercholesterolemia

Risk of Ischemic Stroke and Total Cerebrovascular Disease in Familial Hypercholesterolemia Background and Purpose- Familial hypercholesterolemia (FH) is a common autosomal dominant disease leading to increased level of serum LDL (low-density lipoprotein) cholesterol and risk of coronary heart disease. Whether FH increases the risk of cerebrovascular disease, including ischemic stroke, is debated. Accordingly, we studied the incidence of cerebrovascular disease in a cohort of people

2019 EvidenceUpdates

9. CORRIGENDUM: Efficacy and Safety of Alirocumab in Japanese Patients With Heterozygous Familial Hypercholesterolemia or at High Cardiovascular Risk With Hypercholesterolemia Not Adequately Controlled With Statins - ODYSSEY JAPAN Randomized Controlled Tri (PubMed)

CORRIGENDUM: Efficacy and Safety of Alirocumab in Japanese Patients With Heterozygous Familial Hypercholesterolemia or at High Cardiovascular Risk With Hypercholesterolemia Not Adequately Controlled With Statins - ODYSSEY JAPAN Randomized Controlled Tri 27784878 2017 02 21 2017 10 05 1347-4820 80 11 2016 Circulation journal : official journal of the Japanese Circulation Society Circ. J. CORRIGENDUM: Efficacy and Safety of Alirocumab in Japanese Patients With Heterozygous Familial (...) Hypercholesterolemia or at High Cardiovascular Risk With Hypercholesterolemia Not Adequately Controlled With Statins - ODYSSEY JAPAN Randomized Controlled Trial. 2414 Teramoto Tamio T Kobayashi Masahiko M Tasaki Hiromi H Yagyu Hiroaki H Higashikata Toshinori T Takagi Yoshiharu Y Uno Kiyoko K Baccara-Dinet Marie T MT Nohara Atsushi A eng Journal Article Published Erratum Japan Circ J 101137683 1346-9843 Circ J. 2016 Aug 25;80(9):1980-7 27452202 2016 10 28 6 0 2016 10 28 6 1 2016 10 28 6 0 ppublish 27784878 10.1253

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2017 Circulation journal : official journal of the Japanese Circulation Society

10. Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia. (PubMed)

Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia. Familial hypercholesterolemia (FH) is a common inherited disorder of low density lipoprotein-cholesterol (LDL-C) metabolism. It is associated with higher risk of premature coronary heart disease. Around 60% of patients with a clinical diagnosis of FH do not have a detectable mutation in the genes causing FH and are most likely to have a polygenic cause for their raised LDL

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2017 Atherosclerosis

11. Percutaneous Coronary Intervention in Familial Hypercholesterolemia Is Understudied (PubMed)

Percutaneous Coronary Intervention in Familial Hypercholesterolemia Is Understudied Familial hypercholesterolemia (FH) is a common heritable condition in which mutations of genes governing cholesterol metabolism result in elevated LDL levels and accelerated atherosclerosis. The treatment of FH focuses on lipid lowering drugs to decrease patients' cholesterol levels and reduce their risk of cardiovascular events. Even with optimal medical therapy, some FH patients will develop coronary

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2018 Frontiers in cardiovascular medicine

12. Efficacy and Safety of Alirocumab in High-Risk Patients With Clinical Atherosclerotic Cardiovascular Disease and/or Heterozygous Familial Hypercholesterolemia (from 5 Placebo-Controlled ODYSSEY Trials)

Efficacy and Safety of Alirocumab in High-Risk Patients With Clinical Atherosclerotic Cardiovascular Disease and/or Heterozygous Familial Hypercholesterolemia (from 5 Placebo-Controlled ODYSSEY Trials) Patients with previous atherosclerotic cardiovascular disease (ASCVD) and/or heterozygous familial hypercholesterolemia (HeFH) are at high risk of future cardiovascular events. Despite maximally tolerated doses of statins, many patients still have elevated low-density lipoprotein cholesterol (LDL

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2018 EvidenceUpdates

13. Effectiveness of primary healthcare educational interventions undertaken by nurses to improve chronic disease management in patients with diabetes mellitus, hypertension and hypercholesterolemia: A systematic review

Effectiveness of primary healthcare educational interventions undertaken by nurses to improve chronic disease management in patients with diabetes mellitus, hypertension and hypercholesterolemia: A systematic review Diabetes, hypertension and hypercholesterolemia are important chronic health problems that are becoming increasingly frequent worldwide. Educational interventions are a challenge for health teams. Nurses play a major role in overall health by providing educational interventions (...) the time of treatment for diabetes, hypertension, and hypercholesterolemia.Although there are numerous interventions that aim to control diabetes, hypertension, and hypercholesterolemia, the observation was that the results obtained are difficult to maintain over time. Therefore, it is necessary to continue to create high-quality interventions, with a low risk of bias and based on solid theoretical frameworks, not only to treat current symptoms of the disease but also to help prevent cardiovascular

2018 EvidenceUpdates

14. Intensive Treat-to-Target Statin Therapy in High-Risk Japanese Patients With Hypercholesterolemia and Diabetic Retinopathy: Report of a Randomized Study

Intensive Treat-to-Target Statin Therapy in High-Risk Japanese Patients With Hypercholesterolemia and Diabetic Retinopathy: Report of a Randomized Study Diabetes is associated with high risk of cardiovascular (CV) events, particularly in patients with dyslipidemia and diabetic complications. We investigated the incidence of CV events with intensive or standard lipid-lowering therapy in patients with hypercholesterolemia, diabetic retinopathy, and no history of coronary artery disease (treat

2018 EvidenceUpdates

15. Long-term Low-Density Lipoprotein Cholesterol-Lowering Efficacy, Persistence, and Safety of Evolocumab in Treatment of Hypercholesterolemia: Results Up to 4 Years From the Open-Label OSLER-1 Extension Study. (PubMed)

Long-term Low-Density Lipoprotein Cholesterol-Lowering Efficacy, Persistence, and Safety of Evolocumab in Treatment of Hypercholesterolemia: Results Up to 4 Years From the Open-Label OSLER-1 Extension Study. The Open-Label Study of Long-term Evaluation Against LDL-C (OSLER-1) evaluated the durability of long-term efficacy and safety during long-term therapy with evolocumab, a monoclonal antibody against proprotein convertase subtilisin/kexin type 9 (PCSK9).To determine whether LDL-C level

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2017 JAMA cardiology

16. A Novel IGSF1 Mutation in a Boy With Short Stature and Hypercholesterolemia: A Case Report (PubMed)

A Novel IGSF1 Mutation in a Boy With Short Stature and Hypercholesterolemia: A Case Report IGSF1 deficiency is a recently discovered syndrome consisting of congenital central hypothyroidism (CeH) and macroorchidism. Here, we report on a patient presenting with short stature, who was found to carry a pathogenic mutation in the IGSF1 gene.A 14-year-old Israeli boy was referred to the Academic Medical Center in Amsterdam, The Netherlands, for follow-up on short stature ascribed to constitutional (...) delay of growth and puberty, and familial hypercholesterolemia. Primary hypothyroidism had previously been excluded by a normal thyroid-stimulating hormone (TSH) concentration. However, in follow-up, plasma free thyroxine (FT4) concentrations were repeatedly low, and the patient was diagnosed with CeH. Because of coexistent relative macroorchidism, IGSF1 gene analysis was performed, revealing a mutation (c.2588C>G; p.Ser863Cys). The mutant IGSF1 protein was retained mainly in the endoplasmic

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2017 Journal of the Endocrine Society

17. CRISPR correction of a homozygous low‐density lipoprotein receptor mutation in familial hypercholesterolemia induced pluripotent stem cells (PubMed)

CRISPR correction of a homozygous low‐density lipoprotein receptor mutation in familial hypercholesterolemia induced pluripotent stem cells Familial hypercholesterolemia (FH) is a hereditary disease primarily due to mutations in the low-density lipoprotein receptor (LDLR) that lead to elevated cholesterol and premature development of cardiovascular disease. Homozygous FH patients (HoFH) with two dysfunctional LDLR alleles are not as successfully treated with standard hypercholesterol

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2017 Hepatology communications

18. Altered leukocyte distribution under hypercholesterolemia: A cross-sectional study in children with familial hypercholesterolemia. (PubMed)

Altered leukocyte distribution under hypercholesterolemia: A cross-sectional study in children with familial hypercholesterolemia. Children with familial hypercholesterolemia (FH) have elevated LDL cholesterol from the first year of life, and represent a model of early-stage atherosclerosis. Data suggest that adults with FH have alterations in circulating monocyte subpopulations towards a more pro-inflammatory phenotype, but it is not known whether FH children have similar perturbations

2016 Atherosclerosis

19. Efficacy and Safety of Alirocumab in Japanese Patients With Heterozygous Familial Hypercholesterolemia or at High Cardiovascular Risk With Hypercholesterolemia Not Adequately Controlled With Statins - ODYSSEY JAPAN Randomized Controlled Trial. (PubMed)

Efficacy and Safety of Alirocumab in Japanese Patients With Heterozygous Familial Hypercholesterolemia or at High Cardiovascular Risk With Hypercholesterolemia Not Adequately Controlled With Statins - ODYSSEY JAPAN Randomized Controlled Trial. The ODYSSEY Japan study was designed to demonstrate the reduction in low-density lipoprotein cholesterol (LDL-C) by alirocumab as add-on to existing lipid-lowering therapy in Japanese patients with heterozygous familial hypercholesterolemia (heFH) or non (...) at 52 weeks.In high-risk Japanese patients with hypercholesterolemia on stable statin therapy, alirocumab markedly reduced LDL-C vs. placebo and was well tolerated over 52 weeks. (Circ J 2016; 80: 1980-1987).

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2016 Circulation journal : official journal of the Japanese Circulation Society

20. Diagnostic Yield of Sequencing Familial Hypercholesterolemia Genes in Patients with Severe Hypercholesterolemia. (PubMed)

Diagnostic Yield of Sequencing Familial Hypercholesterolemia Genes in Patients with Severe Hypercholesterolemia. Approximately 7% of American adults have severe hypercholesterolemia (untreated low-density lipoprotein [LDL] cholesterol ≥190 mg/dl), which may be due to familial hypercholesterolemia (FH). Lifelong LDL cholesterol elevations in FH mutation carriers may confer coronary artery disease (CAD) risk beyond that captured by a single LDL cholesterol measurement.This study assessed (...) the prevalence of an FH mutation among those with severe hypercholesterolemia and determined whether CAD risk varies according to mutation status beyond the observed LDL cholesterol level.Three genes causative for FH (LDLR, APOB, and PCSK9) were sequenced in 26,025 participants from 7 case-control studies (5,540 CAD case subjects, 8,577 CAD-free control subjects) and 5 prospective cohort studies (11,908 participants). FH mutations included loss-of-function variants in LDLR, missense mutations in LDLR

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2016 Journal of the American College of Cardiology

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