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1,113 Results Found

  • Article
  • Open Access
1,213 Views
10 Pages

Prevalence of Severe Hypercholesterolemia and Familial Hypercholesterolemia Phenotype in Patients with Acute Coronary Syndrome

  • Urtė Aliošaitienė,
  • Aleksandras Laucevičius,
  • Urtė Smailytė,
  • Egidija Rinkūnienė,
  • Roma Puronaitė,
  • Jūratė Barysienė and
  • Žaneta Petrulionienė

7 April 2025

Background and Objectives: Atherosclerotic cardiovascular disease is one of the most common causes of death and disability around the world. Hypercholesterolemia is an established and widely prevalent risk factor; however, the prevalence of severe hy...

  • Article
  • Open Access
1,956 Views
15 Pages

Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing

  • Ivanna Atava,
  • Monta Briviba,
  • Georgijs Nesterovics,
  • Vita Saripo,
  • Dainus Gilis,
  • Ruta Meiere,
  • Elizabete Terauda,
  • Gunda Skudrina,
  • Janis Klovins and
  • Gustavs Latkovskis

16 December 2024

Despite the implementation of next-generation sequencing-based genetic testing on patients with clinical familial hypercholesterolemia (FH), most cases lack complete genetic characterization. We aim to investigate the utility of the polygenic risk sc...

  • Article
  • Open Access
4 Citations
2,300 Views
14 Pages

Membrane Transporter of Serotonin and Hypercholesterolemia in Children

  • Dinara Sadykova,
  • Razina Nigmatullina,
  • Karina Salakhova,
  • Evgeniia Slastnikova,
  • Liliya Galimova,
  • Chulpan Khaliullina and
  • Ildaria Valeeva

The serotonin membrane transporter is one of the main mechanisms of plasma serotonin concentration regulation. Serotonin plays an important role in the pathogenesis of various cardiovascular diseases, stimulating the proliferation of smooth muscle ce...

  • Review
  • Open Access
19 Citations
6,084 Views
19 Pages

Genes Potentially Associated with Familial Hypercholesterolemia

  • Svetlana Mikhailova,
  • Dinara Ivanoshchuk,
  • Olga Timoshchenko and
  • Elena Shakhtshneider

29 November 2019

This review addresses the contribution of some genes to the phenotype of familial hypercholesterolemia. At present, it is known that the pathogenesis of this disease involves not only a pathological variant of low-density lipoprotein receptor and its...

  • Review
  • Open Access
18 Citations
11,545 Views
12 Pages

The Administration of Probiotics against Hypercholesterolemia: A Systematic Review

  • Bhagavathi Sundaram Sivamaruthi,
  • Muruganantham Bharathi,
  • Periyanaina Kesika,
  • Natarajan Suganthy and
  • Chaiyavat Chaiyasut

27 July 2021

Hypercholesterolemia is a key factor in the progression of atherosclerosis and cardiovascular disease (CVD). CVD is a significant public health concern with a high death rate. Some of the main factors linked to CVD include genetics and lifestyle. Dys...

  • Proceeding Paper
  • Open Access
3 Citations
792 Views
7 Pages

14 November 2024

Hypercholesterolemia is a condition characterized by high blood cholesterol levels. Currently, the drugs available on the market to treat hypercholesterolemia show adverse side effects, related to their chronic use. Consequently, there is an increase...

  • Review
  • Open Access
29 Citations
7,294 Views
15 Pages

Recent Advances on Familial Hypercholesterolemia in Children and Adolescents

  • Francesca Mainieri,
  • Veronica Maria Tagi and
  • Francesco Chiarelli

Familial hypercholesterolemia is a common autosomal hereditary disorder characterized by elevated concentrations of low-density lipoprotein cholesterol and the development of premature atherosclerosis and cardiovascular disease. Early diagnosis, as w...

  • Review
  • Open Access
4 Citations
4,055 Views
14 Pages

The Importance of Arterial Stiffness Assessment in Patients with Familial Hypercholesterolemia

  • Beáta Kovács,
  • Orsolya Cseprekál,
  • Ágnes Diószegi,
  • Szabolcs Lengyel,
  • László Maroda,
  • György Paragh,
  • Mariann Harangi and
  • Dénes Páll

19 May 2022

Cardiovascular diseases are still the leading cause of mortality due to increased atherosclerosis worldwide. In the background of accelerated atherosclerosis, the most important risk factors include hypertension, age, male gender, hereditary predispo...

  • Review
  • Open Access
26 Citations
7,707 Views
13 Pages

As the pathological basis of cardiovascular disease (CVD), atherosclerosis is featured as a chronic inflammation. Hypercholesterolemia is an independent risk factor for CVD. Accumulated studies have shown that hypercholesterolemia is associated with...

  • Review
  • Open Access
5 Citations
10,040 Views
15 Pages

9 November 2022

Familial hypercholesterolemia (FH) is associated with an elevated risk of atherosclerosis. The finding of monogenic defects indicates higher atherosclerotic risk in comparison with hypercholesterolemia of other etiologies. However, in heterozygous FH...

  • Review
  • Open Access
33 Citations
7,320 Views
22 Pages

Nuclear Receptor PXR in Drug-Induced Hypercholesterolemia

  • Mikko Karpale,
  • Janne Hukkanen and
  • Jukka Hakkola

18 January 2022

Atherosclerosis is a major global health concern. The central modifiable risk factors and causative agents of the disease are high total and low-density lipoprotein (LDL) cholesterol. To reduce morbidity and mortality, a thorough understanding of the...

  • Article
  • Open Access
4 Citations
2,865 Views
17 Pages

Diet-Induced Hypercholesterolemia Leads to Cardiac Dysfunction and Alterations in the Myocardial Proteome

  • Márton Richárd Szabó,
  • Márton Pipicz,
  • Márta Sárközy,
  • Bella Bruszel,
  • Zoltán Szabó and
  • Tamás Csont

Elevated blood cholesterol is a major risk factor for coronary heart disease. Moreover, direct effects on the myocardium also contribute to the adverse effects of hypercholesterolemia. Here, we investigated the effect of hypercholesterolemia on the c...

  • Article
  • Open Access
15 Citations
2,957 Views
8 Pages

Effect of PCSK9 Inhibitors on Hemostasis in Patients with Isolated Hypercholesterolemia

  • Marcin Basiak,
  • Marcin Hachula,
  • Michal Kosowski and
  • Boguslaw Okopien

Background: In addition to reducing plasma lipids, proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors may produce numerous nonlipid-related pleiotropic effects. The purpose of this trial was to determine the efficacy of PCSK9 inhibitors...

  • Article
  • Open Access
5 Citations
4,544 Views
15 Pages

Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors

  • Nor Azian Abdul Murad,
  • Yusuf Mohammad Noor,
  • Zam Zureena Mohd. Rani,
  • Siti Aishah Sulaiman,
  • Yock Ping Chow,
  • Noraidatulakma Abdullah,
  • Norfazilah Ahmad,
  • Norliza Ismail,
  • Nazihah Abdul Jalal and
  • Rahman Jamal
  • + 2 authors

15 March 2023

Hypercholesterolemia was prevalent in 44.9% of The Malaysian Cohort participants, of which 51% were Malay. This study aimed to identify the variants involved in hypercholesterolemia among Malays and to determine the association between genetic and no...

  • Review
  • Open Access
15 Citations
9,061 Views
14 Pages

31 December 2022

Homozygous familial hypercholesterolemia (HoFH) is the rare form of familial hypercholesterolemia causing extremely high low-density lipoprotein cholesterol (LDL-C) levels, leading to atherosclerotic cardiovascular disease (ASCVD) in the first decade...

  • Review
  • Open Access
20 Citations
5,809 Views
15 Pages

Antiplatelet Effects of PCSK9 Inhibitors in Primary Hypercholesterolemia

  • Piotr Pęczek,
  • Mateusz Leśniewski,
  • Tomasz Mazurek,
  • Lukasz Szarpak,
  • Krzysztof J. Filipiak and
  • Aleksandra Gąsecka

23 May 2021

Proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibitors are a novel group of hypolipidemic drugs that are recommended particularly for high-risk hypercholesterolemia patients, including those with primary hypercholesterolemia (PH), where lif...

  • Article
  • Open Access
22 Citations
4,248 Views
18 Pages

The Crucial Role of Xanthine Oxidase in CKD Progression Associated with Hypercholesterolemia

  • You-Jin Kim,
  • Se-Hyun Oh,
  • Ji-Sun Ahn,
  • Ju-Min Yook,
  • Chan-Duck Kim,
  • Sun-Hee Park,
  • Jang-Hee Cho and
  • Yong-Lim Kim

9 October 2020

In the present study, we investigated the effects of xanthine oxidase (XO) inhibition on cholesterol-induced renal dysfunction in chronic kidney disease (CKD) mice, and in low-density lipoprotein (LDL)-treated human kidney proximal tubule epithelial...

  • Article
  • Open Access
13 Citations
4,578 Views
22 Pages

Muricholic Acids Promote Resistance to Hypercholesterolemia in Cholesterol-Fed Mice

  • Dany Gaillard,
  • David Masson,
  • Erwan Garo,
  • Maamar Souidi,
  • Jean-Paul Pais de Barros,
  • Kristina Schoonjans,
  • Jacques Grober,
  • Philippe Besnard and
  • Charles Thomas

Background and aims: Hypercholesterolemia is a major risk factor for atherosclerosis and cardiovascular diseases. Although resistant to hypercholesterolemia, the mouse is a prominent model in cardiovascular research. To assess the contribution of bil...

  • Article
  • Open Access
22 Citations
5,175 Views
15 Pages

No Effect of Hypercholesterolemia on Elastase-Induced Experimental Abdominal Aortic Aneurysm Progression

  • Toru Ikezoe,
  • Takahiro Shoji,
  • Jia Guo,
  • Fanru Shen,
  • Hong S. Lu,
  • Alan Daugherty,
  • Masao Nunokawa,
  • Hiroshi Kubota,
  • Masaaki Miyata and
  • Ronald L. Dalman
  • + 1 author

30 September 2021

Objective: Epidemiological studies link hyperlipidemia with increased risk for abdominal aortic aneurysms (AAAs). However, the influence of lipid-lowering drugs statins on prevalence and progression of clinical and experimental AAAs varies between re...

  • Review
  • Open Access
6 Citations
4,898 Views
18 Pages

Management of Familial Hypercholesterolemia with Special Emphasis on Evinacumab

  • Julia Krzemińska,
  • Ewelina Młynarska,
  • Ewa Radzioch,
  • Magdalena Wronka,
  • Jacek Rysz and
  • Beata Franczyk

16 December 2022

Familial hypercholesterolemia (FH) is an underdiagnosed disease that contributes to a significant number of cardiovascular incidents through high serum Low-Density Lipoprotein Cholesterol (LDL-C) values. Its treatment primarily requires healthy lifes...

  • Review
  • Open Access
1 Citations
10,402 Views
17 Pages

Dietary Approach in Familial Hypercholesterolemia

  • Joanna Popiolek-Kalisz,
  • Klaudia Salamon,
  • Michal Mazur,
  • Klaudia Mikolajczyk and
  • Grzegorz Kalisz

Introduction: Familial hypercholesterolemia (FH) is a genetic disorder that remains underdiagnosed and undertreated. It is characterized by high levels of low-density lipoprotein cholesterol (LDL-C), which leads to an increased cardiovascular disease...

  • Article
  • Open Access
2 Citations
3,908 Views
11 Pages

Comparison of Two Strategies for Hypercholesterolemia Detection through Point-of-Care Testing

  • Héctor Eliud Arriaga-Cázares,
  • David Vega-Morales,
  • Carlos Alberto Moreno-Treviño,
  • Juana Lorena Juarez-Juarez,
  • Carlos Azael Pérez-Arizmendi and
  • Alexandro J. Martagón-Rosado

Background: Childhood dyslipidemia is a common condition that can lead to atherosclerotic cardiovascular disease in adulthood. It is usually multifactorial. Screening for cholesterol disorders in children varies based on risk factors, with some guide...

  • Article
  • Open Access
10 Citations
3,917 Views
12 Pages

Changes of Hematological and Hemorheological Parameters in Rabbits with Hypercholesterolemia

  • Bence Tanczos,
  • Viktoria Somogyi,
  • Mariann Bombicz,
  • Bela Juhasz,
  • Norbert Nemeth and
  • Adam Deak

17 April 2021

Hypercholesterolemia plays an important role in the development of atherosclerosis, leading to endothelial dysfunction, ischemic events, and increased mortality. Numerous studies suggest the pivotal role of rheological factors in the pathology of ath...

  • Systematic Review
  • Open Access
33 Citations
16,842 Views
24 Pages

A Systematic Review and Meta-Analysis of Ayurvedic Herbal Preparations for Hypercholesterolemia

  • Dinesh Gyawali,
  • Rini Vohra,
  • David Orme-Johnson,
  • Sridharan Ramaratnam and
  • Robert H. Schneider

Background and Objectives: Cardiovascular disease (CVD) is the leading cause of death globally and hypercholesterolemia is one of the major risk factors associated with CVD. Due to a growing body of research on side effects and long-term impacts of c...

  • Article
  • Open Access
11 Citations
3,761 Views
13 Pages

Endothelial Microparticles as Potential Biomarkers in the Assessment of Endothelial Dysfunction in Hypercholesterolemia

  • Nik Nor Izah Nik Ibrahim,
  • Razlina Abdul Rahman,
  • Maryam Azlan,
  • Aniza Abd Aziz and
  • Aida Hanum Ghulam Rasool

19 June 2022

Background and Objectives: Endothelial microparticles (EMP) particularly CD31+/42/AV+, CD144+/AV+ and CD62e+/AV+ have been reported as having increased in cardiovascular-related diseases, making them potential biomarkers for endothelial dysfun...

  • Article
  • Open Access
34 Citations
8,660 Views
15 Pages

15 March 2017

Hypercholesterolemia is a known risk factor for cardiovascular diseases and affects a high proportion of the population. This study aimed to assess and compare the determinants of hypercholesterolemia among Chinese adults aged 18 years and above, fro...

  • Article
  • Open Access
6 Citations
12,228 Views
14 Pages

Prevalence of Diabetes and Its Association with Atherosclerotic Cardiovascular Disease Risk in Patients with Familial Hypercholesterolemia: An Analysis from the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH)

  • Chrysoula Boutari,
  • Christos V. Rizos,
  • Michalis Doumas,
  • George Liamis,
  • Ioannis Skoumas,
  • Loukianos Rallidis,
  • Anastasia Garoufi,
  • Genovefa Kolovou,
  • Konstantinos Tziomalos and
  • Evangelos Liberopoulos
  • + 13 authors

28 December 2022

Familial hypercholesterolemia (FH) and type 2 diabetes mellitus (T2DM) are both associated with a high risk of atherosclerotic cardiovascular disease (ASCVD). Little is known about the prevalence of T2DM and its association with ASCVD risk in FH pati...

  • Article
  • Open Access
24 Citations
5,309 Views
17 Pages

18 July 2022

Cholesterol is a waxy substance found in blood lipids. Its role in the human body is helpful in the process of producing new cells as long as it is at a healthy level. When cholesterol exceeds the permissible limits, it works the opposite, causing se...

  • Review
  • Open Access
28 Citations
8,333 Views
15 Pages

Recent Advances in Gene Therapy for Familial Hypercholesterolemia: An Update Review

  • Qingan Fu,
  • Lijuan Hu,
  • Tianzhou Shen,
  • Renqiang Yang and
  • Long Jiang

16 November 2022

(1) Background: Existing lipid-lowering therapies have difficulty in achieving lipid target levels in patients with familial hypercholesterolemia (FH), especially in the treatment of patients with homozygous familial hypercholesterolemia. (2) Method:...

  • Review
  • Open Access
9 Citations
12,487 Views
18 Pages

8 September 2021

There is an increasing number of nutraceutical combinations (NCs) on the market for hypercholesterolemia, although clinical trials to verify their safety and efficacy are scarce. We selected fourteen randomized, placebo-controlled clinical trials (RC...

  • Communication
  • Open Access
4 Citations
2,517 Views
11 Pages

Metabolomic Approach to Screening Homozygotes in Chinese Patients with Severe Familial Hypercholesterolemia

  • Zhiyong Du,
  • Yunhui Du,
  • Linyi Li,
  • Haili Sun,
  • Chaowei Hu,
  • Long Jiang,
  • Luya Wang and
  • Yanwen Qin

6 January 2023

Homozygous familial hypercholesterolemia (HoFH) is a rare inborn-errors-of-metabolism disorder characterized by devastatingly elevated low-density lipoprotein cholesterol (LDL-C) and premature cardiovascular disease. The gold standard for screening a...

  • Review
  • Open Access
21 Citations
4,477 Views
11 Pages

Familial Hypercholesterolemia: Do HDL Play a Role?

  • Juan Pedro-Botet,
  • Elisenda Climent and
  • David Benaiges

Cardiovascular disease (CVD) in heterozygous familial hypercholesterolemia (HeFH), the most frequent monogenic disorder of human metabolism, is largely driven by low-density lipoprotein (LDL) cholesterol concentrations. Since the CVD rate differs con...

  • Review
  • Open Access
111 Citations
24,759 Views
21 Pages

Familial Hypercholesterolemia: The Most Frequent Cholesterol Metabolism Disorder Caused Disease

  • Asier Benito-Vicente,
  • Kepa B. Uribe,
  • Shifa Jebari,
  • Unai Galicia-Garcia,
  • Helena Ostolaza and
  • Cesar Martin

1 November 2018

Cholesterol is an essential component of cell barrier formation and signaling transduction involved in many essential physiologic processes. For this reason, cholesterol metabolism must be tightly controlled. Cell cholesterol is mainly acquired from...

  • Review
  • Open Access
3,207 Views
13 Pages

29 September 2024

Patients affected by familial hypercholesterolemia possess elevated low-density lipoprotein cholesterol and therefore have greater risk for cardiovascular disease. About 90% of familial hypercholesterolemia cases are associated with aberrant LDLR. Ov...

  • Article
  • Open Access
7 Citations
3,885 Views
11 Pages

3 September 2022

Background: Whether higher cardiorespiratory fitness (CRF) confers protection against cardiovascular disease (CVD) in individuals with manifest hypercholesterolemia is poorly understood. Methods: Participants were 8920 men aged 20–82 years with...

  • Article
  • Open Access
1 Citations
3,618 Views
13 Pages

The Importance of Genetic Testing for Familial Hypercholesterolemia: A Pediatric Pilot Study

  • Andreea Teodora Constantin,
  • Corina Delia,
  • Lucia Maria Roșu,
  • Ioana Roșca,
  • Ioana Streață,
  • Anca-Lelia Riza and
  • Ioan Gherghina

29 September 2024

Background and Objectives: Familial hypercholesterolemia (FH) is a genetic disease that is massively underdiagnosed worldwide. Affected patients are at high risk of cardiovascular events at young ages. Early intervention in childhood could help preve...

  • Brief Report
  • Open Access
3 Citations
3,052 Views
6 Pages

Many studies have assessed the implication of cluster of differentiation 14 (CD14) molecules and its single nucleotide polymorphism rs2569190A>G with different complex diseases, such as diabetes and cardiovascular diseases (CVDs). In this study, w...

  • Article
  • Open Access
13 Citations
4,121 Views
14 Pages

Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolemia: A Propensity Score Analysis

  • Agnieszka Mickiewicz,
  • Marta Futema,
  • Agnieszka Ćwiklinska,
  • Agnieszka Kuchta,
  • Maciej Jankowski,
  • Mariusz Kaszubowski,
  • Magdalena Chmara,
  • Bartosz Wasąg,
  • Marcin Fijałkowski and
  • Marcin Gruchała
  • + 2 authors

20 May 2020

Background: The monogenic defect in familial hypercholesterolemia (FH) is detected in ∼40% of cases. The majority of mutation-negative patients have a polygenic cause of high LDL-cholesterol (LDL-C). We sought to investigate whether the underlyin...

  • Article
  • Open Access
9 Citations
2,812 Views
10 Pages

Metabolomics Analysis Reveals Molecular Signatures of Metabolic Complexity in Children with Hypercholesterolemia

  • Pei-Shin Gu,
  • Kuan-Wen Su,
  • Kuo-Wei Yeh,
  • Jing-Long Huang,
  • Fu-Sung Lo and
  • Chih-Yung Chiu

31 March 2023

Despite the importance of hypercholesterolemia in children, it is overlooked, and there are currently few metabolomics-based approaches available to understand its molecular mechanisms. Children from a birth cohort had their cholesterol levels measur...

  • Review
  • Open Access
14 Citations
7,401 Views
13 Pages

Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia

  • Hayato Tada,
  • Masa-aki Kawashiri,
  • Atsushi Nohara,
  • Tomoko Sekiya,
  • Atsushi Watanabe and
  • Masayuki Takamura

26 February 2024

Familial hypercholesterolemia (FH) is one of the most common autosomal codominant Mendelian diseases. The major complications of FH include tendon and cutaneous xanthomas and coronary artery disease (CAD) associated with a substantial elevation of se...

  • Review
  • Open Access
12 Citations
5,234 Views
18 Pages

Advances in Pharmacological Approaches for Managing Hypercholesterolemia: A Comprehensive Overview of Novel Treatments

  • Andrea Mormone,
  • Giovanni Tortorella,
  • Francesca Esposito,
  • Alfredo Caturano,
  • Aldo Marrone,
  • Domenico Cozzolino,
  • Raffaele Galiero,
  • Raffaele Marfella,
  • Ferdinando Carlo Sasso and
  • Luca Rinaldi

Hypercholesterolemia plays a crucial role in the formation of lipid plaques, particularly with elevated low-density lipoprotein (LDL-C) levels, which are linked to increased risks of cardiovascular disease, cerebrovascular disease, and peripheral art...

  • Article
  • Open Access
1 Citations
2,280 Views
15 Pages

Missing Regulation Between Genetic Association and Transcriptional Abundance for Hypercholesterolemia Genes

  • Aaron Hakim,
  • Noah J. Connally,
  • Gavin R. Schnitzler,
  • Michael H. Cho,
  • Z. Gordon Jiang,
  • Shamil R. Sunyaev and
  • Rajat M. Gupta

15 January 2025

Background: Low-density lipoprotein cholesterol (LDL-C) is a well-established risk factor for cardiovascular disease, and it plays a causal role in the development of atherosclerosis. Genome-wide association studies (GWASs) have successfully identifi...

  • Review
  • Open Access
20 Citations
11,506 Views
13 Pages

Severe Dyslipidemia Mimicking Familial Hypercholesterolemia Induced by High-Fat, Low-Carbohydrate Diets: A Critical Review

  • Veera Houttu,
  • Aldo Grefhorst,
  • Danny M. Cohn,
  • Johannes H. M. Levels,
  • Jeanine Roeters van Lennep,
  • Erik S. G. Stroes,
  • Albert K. Groen and
  • Tycho R. Tromp

15 February 2023

Emerging studies in the literature describe an association between high-fat, low-carbohydrate diets and severe hypercholesterolemia consistent with the levels observed in patients with (homozygous) familial hypercholesterolemia (FH). High levels of l...

  • Article
  • Open Access
24 Citations
6,685 Views
11 Pages

Effects of Surface-Deacetylated Chitin Nanofibers in an Experimental Model of Hypercholesterolemia

  • Kazuo Azuma,
  • Tomone Nagae,
  • Takeshi Nagai,
  • Hironori Izawa,
  • Minoru Morimoto,
  • Yusuke Murahata,
  • Tomohiro Osaki,
  • Takeshi Tsuka,
  • Tomohiro Imagawa and
  • Shinsuke Ifuku
  • + 3 authors

30 July 2015

This study evaluated the effects of oral administration of surface-deacetylated chitin nanofibers (SDACNFs) on hypercholesterolemia using an experimental model. All rats were fed a high cholesterol diet with 1% w/w cholesterol and 0.5% w/w cholic a...

  • Review
  • Open Access
17 Citations
9,054 Views
25 Pages

Unveiling Familial Hypercholesterolemia—Review, Cardiovascular Complications, Lipid-Lowering Treatment and Its Efficacy

  • Piotr Fularski,
  • Joanna Hajdys,
  • Gabriela Majchrowicz,
  • Magdalena Stabrawa,
  • Ewelina Młynarska,
  • Jacek Rysz and
  • Beata Franczyk

29 January 2024

Familial hypercholesterolemia (FH) is a genetic disorder primarily transmitted in an autosomal-dominant manner. We distinguish two main forms of FH, which differ in the severity of the disease, namely homozygous familial hypercholesterolemia (HoFH) a...

  • Article
  • Open Access
1 Citations
3,135 Views
11 Pages

This retrospective cross-sectional database study used 2018 Medical Expenditure Panel Survey data to quantify and assess differences in healthcare expenditures between opioid users and non-users among a non-institutionalized sample of older (≥50 year...

  • Review
  • Open Access
1,638 Views
18 Pages

Screening for Familial Hypercholesterolemia in Childhood: An Overview of Current Practices Around the World

  • Maria Elena Capra,
  • Roberta Sodero,
  • Elisa Travaglia,
  • Giuseppe Banderali,
  • Giacomo Biasucci and
  • Cristina Pederiva

9 October 2025

Familial hypercholesterolemia (FH) is a common genetic disorder with a fairly constant worldwide prevalence of 1 case per 311 individuals worldwide. It is characterized by severe hypercholesterolemia from birth, early atherosclerosis and death from c...

  • Review
  • Open Access
13 Citations
4,173 Views
14 Pages

4 November 2020

Hypercholesterolemia is a major cause of atherosclerosis development and premature cardiovascular disease (CVD). It leads to inflammation, which further accelerates atherosclerosis progression. Familial hypercholesterolemia (FH) is an autosomal domin...

  • Article
  • Open Access
12 Citations
3,165 Views
14 Pages

Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia)

  • Elena Shakhtshneider,
  • Dinara Ivanoshchuk,
  • Olga Timoshchenko,
  • Pavel Orlov,
  • Sergey Semaev,
  • Emil Valeev,
  • Andrew Goonko,
  • Nataliya Ladygina and
  • Mikhail Voevoda

19 November 2021

The aim of this work was to identify genetic variants potentially involved in familial hypercholesterolemia in 43 genes associated with lipid metabolism disorders. Targeted high-throughput sequencing of lipid metabolism genes was performed (80 subjec...

  • Review
  • Open Access
22 Citations
4,639 Views
24 Pages

Platelet Redox Imbalance in Hypercholesterolemia: A Big Problem for a Small Cell

  • Alessandro Morotti,
  • Cristina Barale,
  • Elena Melchionda and
  • Isabella Russo

28 September 2022

The imbalance between reactive oxygen species (ROS) synthesis and their scavenging by anti-oxidant defences is the common soil of many disorders, including hypercholesterolemia. Platelets, the smallest blood cells, are deeply involved in the pathophy...

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