61+ results for “Familial hypercholesterolemia”

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familial hypercholesterolemia “We examined 74 genes curated from the Genomics England PanelApp, focusing on familial hypercholesterolemia (FH), cardiac arrhythmias (CA), and pulmonary arterial hypertension (PAH), ultimately detecting 8,251 variants.”
PAH “We examined 74 genes curated from the Genomics England PanelApp, focusing on familial hypercholesterolemia (FH), cardiac arrhythmias (CA), and pulmonary arterial hypertension (PAH), ultimately detecting 8,251 variants.”
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familial hypercholesterolemia “The high prevalence of traditional risk factors, including dyslipidemia, obesity, diabetes, hypertension, smoking, and physical inactivity, together with genetic predisposition and familial hypercholesterolemia, contributes substantially to earlier disease onset.”
hypertension “The high prevalence of traditional risk factors, including dyslipidemia, obesity, diabetes, hypertension, smoking, and physical inactivity, together with genetic predisposition and familial hypercholesterolemia, contributes substantially to earlier disease onset.”
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familial hypercholesterolemia “Traditional cardiovascular risk factors and their association with atherosclerotic cardiovascular disease in homozygous familial hypercholesterolemia: A cross-sectional analysis from the HICC registry.”
coronary artery disease “This study aimed to determine the prevalence of traditional coronary artery disease (CAD) risk factors-hypertension, diabetes, smoking, and obesity-and their associations with CAD in HoFH.”
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familial hypercholesterolemia “Global survey of genetic testing methods for familial hypercholesterolemia.”
LDLR “BACKGROUND AND AIMS: Familial hypercholesterolemia (FH), primarily caused by pathogenic LDLR, APOB, or PCSK9 variants, results in elevated LDL-C and increased cardiovascular risk.”
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familial hypercholesterolemia “Both drug classes are well tolerated across diverse patient populations, including those with high or very high-risk, familial hypercholesterolemia (FH), recent acute coronary syndrome (ACS), or statin intolerance.”
PCSK9 “Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9)-targeted therapies, which include monoclonal antibodies (evolocumab, alirocumab) and small interfering RNA (inclisiran), offer potent LDL-C lowering that can help address this gap.”
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familial hypercholesterolemia “Correction: Untargeted metabolomics reveals distinct biomarkers and metabolic alterations in familial and non-genetic hypercholesterolemia in Saudi patients. [This corrects the article DOI: 10.3389/fmed.2025.1670282.].”
Saudi Arabia “Correction: Untargeted metabolomics reveals distinct biomarkers and metabolic alterations in familial and non-genetic hypercholesterolemia in Saudi patients. [This corrects the article DOI: 10.3389/fmed.2025.1670282.].”
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familial hypercholesterolemia “Severe left main and ostial right coronary obstruction with supra aortic valve atherosclerotic stenosis in a 16 Year old patient with familial hypercholesterolemia: A case report.”
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familial hypercholesterolemia “Investigating the phytotherapeutic efficacy of Acacia nilotica pod ethanolic extract in modulating lipid profile, oxidative stress and inflammation in diet-induced hypercholesterolemia: in vivo and in silico insights.”
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familial hypercholesterolemia “To date, the Food and Drug Administration (FDA) has approved multiple gene therapies such as Kynamro for familial hypercholesterolaemia, Exondys51 for duchenne muscular dystrophy, Spinraza for spinal muscular atrophy, etc., rest for cancer, infectious diseases, and rare diseases.”
thalassemia “INTRODUCTION: Several severe disorders, such as inherited diseases (e.g. cystic fibrosis and beta thalassemia), genetic diseases (e.g. malignant tumors and diabetes), and infectious diseases (e.g.”
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familial hypercholesterolemia “Importantly, associations of LDLR, KCNJ13, and PMP22 with Familial hypercholesterolemia, Hyperlipoproteinemia, Charcot-marie-tooth disease type 1 and 4, and Leber congenital amaurosis were discovered.”
INSIG1 “SCD, INSIG1, CYP51A1, and LDLR have strong protein-protein interactions.”
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familial hypercholesterolemia “Whole exome sequencing identifies concurrent LDLR and ABCG8 mutations in a Saudi family with familial hypercholesterolemia and Sitosterolaemia.”
LDLR “Whole exome sequencing identifies concurrent LDLR and ABCG8 mutations in a Saudi family with familial hypercholesterolemia and Sitosterolaemia.”
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familial hypercholesterolemia “Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registry.”
obesity “Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registry.”
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familial hypercholesterolemia “Obesity-induced cellular changes, such as impaired CD8+ T cell function, dyslipidemia, hypercholesterolemia, insulin resistance, mild hyperglycemia, and fluctuating levels of leptin, resistin, adiponectin, and IL-6, contribute to cancer development by promoting inflammation and creating a tumor-promoting microenvironment rich in adipocytes.”
obesity “Obesity, a global health concern, is associated with severe health issues like type 2 diabetes, heart disease, and respiratory complications.”
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familial hypercholesterolemia “Conclusions: Our findings indicate significant associations between sickle cell anemia and insurance coverage, smoking, obesity, diabetes mellitus, hypertension, hypercholesterolemia, and heart disease.”
sickle cell anemia “The Prevalence and Predictors of Sickle Cell Anemia in the Saudi Arabia General Population: Findings from a Cross-Sectional Study.”
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familial hypercholesterolemia “Pathogenic LDLR Variants (c.103 C>T and c.2416dup) in ligand-binding and cytosolic domains in Saudi familial hypercholesterolemia: Molecular characterization and computational insights.”
LDLR “Pathogenic LDLR Variants (c.103 C>T and c.2416dup) in ligand-binding and cytosolic domains in Saudi familial hypercholesterolemia: Molecular characterization and computational insights.”
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familial hypercholesterolemia “Evolocumab was not cost-effective in Chinese post-myocardial infarction (MI) patients (ICERs up to $281,762/QALY) but favorable in familial hypercholesterolemia(FH) ($57,018/QALY), and when evolocumab added to statins was cost-effective in patients with acute MI ($7,819 to $61,242 per QALY) and acute coronary syndrome (ACS) (vs. ezetimibe + statins) ($26,110/QALY) and atherosclerotic cardiovascular disease (ASCVD) (vs. placebo + statins)($4,268/QALY).”
PCSK9 “Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) inhibitors (alirocumab, evolocumab) and inclisiran offer greater low-density lipoprotein cholesterol (LDL-C) reduction and improved outcomes beyond statins and ezetimibe, but high costs raise affordability concerns in low- and middle-income countries.”
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familial hypercholesterolemia “Homozygous familial hypercholesterolemia evaluation and survival single center study in Saudi Arabia: The HESSA registry.”
Saudi Arabia “Homozygous familial hypercholesterolemia evaluation and survival single center study in Saudi Arabia: The HESSA registry. In Saudi Arabia, where consanguinity is common, HoFH prevalence is higher with unique genetic pathogenic familial hypercholesterolemia (FH) causing variants and treatment challenges. This study aims to analyze the clinical, genetic, treatment, and cardiovascular outcomes data of Saudi pediatric and adult HoFH patients treated at King Faisal Specialist Hospital & Research Centre (KFSHRC) over 23 years. RESULTS: Among 514 severe hypercholesterolemia cases, 127 had HoFH. CONCLUSIONS: This study highlights the burden of null LDL-R pathogenic FH-causing variants and the frequent need for invasive treatments in Saudi HoFH patients.”
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familial hypercholesterolemia “Assessment of Primary Health Care Physicians' Awareness, Knowledge, and Practice of Familial Hypercholesterolemia in Jazan, Saudi Arabia.”
coronary artery disease “Introduction Familial hypercholesterolemia (FH) is a prevalent genetic disorder that predisposes affected individuals to premature coronary artery disease (CAD).”
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familial hypercholesterolemia “Medical and Financial Consequences of Using PCSK9 Inhibitors for Managing Hypercholesterolemia in Saudi Arabia: A Historical Cohort Study.”
PCSK9 “Medical and Financial Consequences of Using PCSK9 Inhibitors for Managing Hypercholesterolemia in Saudi Arabia: A Historical Cohort Study.”
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familial hypercholesterolemia “Multimodal Therapy Achieves Secondary Prevention LDL-C Targets in LDL-Receptor Null Homozygous Familial Hypercholesterolemia.”
LDLR “BACKGROUND: Homozygous familial hypercholesterolemia is a rare condition most commonly associated with pathogenic variants in the LDLR gene that leads to mortality before age 20 if not treated.”
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familial hypercholesterolemia “RECENT FINDINGS: The reviewed literature suggested that various components present in flaxseeds are known to combat impaired carbohydrate metabolism including the other associated diabetic abnormalities like oxidative stress markers, inflammation, and hypercholesterolemia.”
diabetes mellitus “Flaxseed in Diabetes Management: Nutritional and Therapeutic Insights.”
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familial hypercholesterolemia “Untargeted metabolomics reveals distinct biomarkers and metabolic alterations in familial and non-genetic hypercholesterolemia in Saudi patients.”
Saudi Arabia “Untargeted metabolomics reveals distinct biomarkers and metabolic alterations in familial and non-genetic hypercholesterolemia in Saudi patients. METHODS: A high-resolution metabolomics analysis was performed using ultra-performance liquid chromatography coupled with quadrupole time-of-flight mass spectrometry (UPLC-Q-TOF/MS) on plasma samples from FH, HC, and healthy Saudi individuals.”
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familial hypercholesterolemia “Initially, she was misdiagnosed with familial hypercholesterolemia, but subsequent testing of the low-density lipoprotein receptor gene by next-generation sequencing ruled out this condition.”
ABCG5 “Sitosterolemia With Two Heterozygous Variants Including a Novel Mutation c.1800T>A in the ABCG5 Gene: A Case Report of a Rare Condition in a Young Saudi Girl.”
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familial hypercholesterolemia “Cases with the rs1396409AG genotype exhibited hypertriglyceridemia (p < 0.001) and hypercholesterolemia (p = 0.001).”
GRM7 “Association between genetic variants of GRM7 (rs1396409 and rs9883258) and treatment outcomes in Schizophrenic Egyptian patients.”
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familial hypercholesterolemia “INTRODUCTION: Hypercholesterolemia, mainly low-density lipoprotein cholesterol (LDL-C) and triglycerides (TGs), is a major risk factor for coronary artery disease (CAD).”
coronary artery disease “INTRODUCTION: Hypercholesterolemia, mainly low-density lipoprotein cholesterol (LDL-C) and triglycerides (TGs), is a major risk factor for coronary artery disease (CAD).”
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familial hypercholesterolemia “Modern approaches to the management of homozygous familial hypercholesterolemia in the Middle East and North Africa.”
ANGPTL3 “Treatment of HoFH comprises a multi-modal approach of statins, ezetimibe, lipoprotein apheresis; and inhibitors of proprotein convertase subtilisin/kexin type, angiopoietin-like protein 3 (ANGPTL3) and microsomal triglyceride transfer protein.”
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familial hypercholesterolemia “The Effect of PCSK9 Inhibitors on LDL-C Target Achievement in Patients with Homozygous Familial Hypercholesterolemia: A Retrospective Cohort Analysis.”
PCSK9 “The Effect of PCSK9 Inhibitors on LDL-C Target Achievement in Patients with Homozygous Familial Hypercholesterolemia: A Retrospective Cohort Analysis.”
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familial hypercholesterolemia “BBR ameliorated hypercholesterolemia, hypertriglyceridemia, and plasma lipoproteins in P-407-adminsitered rats.”
ABCA1 “The expression of low-density lipoprotein receptor (LDL-R) and ATP-binding cassette transporter 1 (ABCA1) was downregulated in hyperlipidemic rats.”
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familial hypercholesterolemia “Knowledge, attitude, and practice of physicians towards familial hypercholesterolaemia in north regions of Saudi Arabia.”
Saudi Arabia, Hail “Knowledge, attitude, and practice of physicians towards familial hypercholesterolaemia in north regions of Saudi Arabia. METHODS: The cross-sectional study was conducted from October to December 2022 in Aljouf, Tabouk, Hail and northern border regions of Saudi Arabia after approval from the ethics review committee of Qurayyat Health Affairs. RESULTS: Of the 430 subjects, 220(51.2%) were males, 89(20.7%) were aged 36-40 years, 169(39.3%) were residents, and 146(34%) had experience >15 years.”
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familial hypercholesterolemia “Correction to: The Effect of PCSK9 Inhibitors on LDL-C Target Achievement in Patients with Homozygous Familial Hypercholesterolemia: A Retrospective Cohort Analysis.”
PCSK9 “Correction to: The Effect of PCSK9 Inhibitors on LDL-C Target Achievement in Patients with Homozygous Familial Hypercholesterolemia: A Retrospective Cohort Analysis.”
Addressing comprehensive complexities a striking familial hypercholesterolemia case study.
The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2024 · PMID 38643314 · PubMed ↗ · all extracted evidence
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familial hypercholesterolemia “Addressing comprehensive complexities a striking familial hypercholesterolemia case study.”
dyslipidemia “Diagnostic evaluation revealed distinct electrocardiographic changes, elevated troponin levels, and profound dyslipidemia.”
Lomitapide: A Medication Use Evaluation and a Formulary Perspective.
Global journal on quality and safety in healthcare · 2024 · PMID 38725887 · PubMed ↗ · all extracted evidence
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familial hypercholesterolemia “INTRODUCTION: Lomitapide is approved for lowering low-density lipoprotein cholesterol (LDL-C) in homozygous familial hypercholesterolemia, which is a rare genetic disorder.”
Saudi Arabia, Riyadh “METHODS: This was a retrospective review of patients who were actively prescribed lomitapide at King Abdulaziz Medical City, Riyadh, Saudi Arabia, from 2019 to 2022.”
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familial hypercholesterolemia “Lomitapide for the treatment of paediatric patients with homozygous familial hypercholesterolaemia (APH-19): results from the efficacy phase of an open-label, multicentre, phase 3 study.”
Saudi Arabia “METHODS: APH-19 is an open-label, single-arm, phase 3 trial performed at 12 study centres in Germany, Israel, Italy, Saudi Arabia, Spain, and Tunisia. FINDINGS: Between Dec 20, 2020, and Oct 16, 2022, 43 patients were included and treated (24 [56%] were female and 19 [44%] were male, and median age was 10·7 years [7·0-14·0]).”
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familial hypercholesterolemia “The effectiveness of liver transplantation in reducing lipid levels in Saudi children with homozygous familial hypercholesterolemia.”
Saudi Arabia, Riyadh “The effectiveness of liver transplantation in reducing lipid levels in Saudi children with homozygous familial hypercholesterolemia. INTRODUCTION: The lipid profiles of patients aged <15 years who have been diagnosed with homozygous familial hypercholesterolemia (HoFH) at King Faisal Specialist Hospital & Research Center (Riyadh) were examined. METHODS: The total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels of 17 patients were measured on initial presentation and compared with the levels measured after pharmacological treatment and then again after liver transplantation.”
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familial hypercholesterolemia “Novel LDLR Variant in Familial Hypercholesterolemia: NGS-Based Identification, In Silico Characterization, and Pharmacogenetic Insights.”
LDLR “Novel LDLR Variant in Familial Hypercholesterolemia: NGS-Based Identification, In Silico Characterization, and Pharmacogenetic Insights.”
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familial hypercholesterolemia “Identification and functional characterization of two rare LDLR stop gain variants (p.C231* and p.R744*) in Saudi familial hypercholesterolemia patients.”
LDLR “Identification and functional characterization of two rare LDLR stop gain variants (p.C231* and p.R744*) in Saudi familial hypercholesterolemia patients.”
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familial hypercholesterolemia “Exploring the Sociodemographic and Behavioral Status of People Living with Hypercholesterolemia in Saudi Arabia: A Nation-Wide Cross-Sectional Study.”
nephrotic syndrome “Many factors can contribute to HC, including advanced age, chronic diseases (such as diabetes and nephrotic syndrome), and the use of certain medications.”
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familial hypercholesterolemia “TXNIP was significantly upregulated in STEMI-ACS patients compared to CSA (p = 0.045) and NSTEMI ACS (p = 0.046), among non-diabetic (p = 0.023) smokers (p = 0.036) with hypertension (p = 0.005) and hypercholesterolemia (p = 0.001).”
PIK3C2A “Various Expressions of PIK3C2A and TXNIP Genes and Their Potential Role as Independent Risk Factors for Chronic Stable Angina and Acute Coronary Syndrome.”
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familial hypercholesterolemia “Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis.”
PCSK9 “Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis.”
Management and clinical outcomes of patients with homozygous familial hypercholesteremia in Saudi Arabia.
Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace · 2023 · PMID 36786168 · PubMed ↗ · all extracted evidence
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familial hypercholesterolemia “We report the incidence, patient characteristic with clinical outcomes in patients with homozygous familial hypercholesterolemia (HoFH) in Saudi Arabia.”
LDLR “LDLR mutation was in 78% and LDL-C/LDLRAP in 3% of patients.”
Physicians' perceptions and beliefs on the current dyslipidemia management practices within Saudi Arabia.
Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2023 · PMID 37705879 · PubMed ↗ · all extracted evidence
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familial hypercholesterolemia “Rosuvastatin was mostly preferred by physicians for patients with familial hypercholesterolemia.”
dyslipidemia “Physicians' perceptions and beliefs on the current dyslipidemia management practices within Saudi Arabia.”
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familial hypercholesterolemia “RESULTS: A total of 578 patients were enrolled (40.1% female, median age 60 [interquartile range (IQR) 51-68] years); 83.7% had atherosclerotic cardiovascular disease and/or familial hypercholesterolemia.”
dyslipidemia “Real-World Insights into Evolocumab Use in Patients with Hyperlipidemia Across Five Countries: Analysis from the ZERBINI Study.”
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familial hypercholesterolemia “RESULTS: 8-Hydroxy-2´-deoxyguanosine was found to be positively correlated with hypercholesterolemia, hypertriglyceridemia, and high levels of low-density lipoproteins (r = 0.53, 0.41, and 0.60), respectively (p<0.001).”
dyslipidemia “Investigation of Hyperlipidemia Associated with Increased Levels of Oxidized Low-Density Lipoproteins and 8-Hydroxy-2´-Deoxyguanosine.”
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familial hypercholesterolemia “Identifying significant genes and functionally enriched pathways in familial hypercholesterolemia using integrated gene co-expression network analysis.”
CSNK1A1 “The genes like CSNK1A1, JAK3, PLCG2, RALA, and ZEB2 were found to be enriched under all GO annotation categories.”
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familial hypercholesterolemia “OBJECTIVE: Hypercholesterolemia is a strong risk factor for cardiovascular diseases.”
APOB “The hepatic mRNA levels of cholesterol metabolism genes (APOB, PCSK9, HMGCR, LDLR, and CYP7A1) in the HCD group also tended toward increased cholesterol production and reduced cholesterol clearance.”