47 results for “Familial hypercholesterolemia”

Show results for
All types47Gene0Phenotype1Variant0Publication46
Scope
Saudi human-genetics coreAll Saudi-affiliated records

Advanced search

Familial hypercholesterolemia
Phenotype · HP:0003124 · 46 articles

Publications

Matches:
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.”
Matches:
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.”
Matches:
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.”
Matches:
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.”
Matches:
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.”
Matches:
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.”
Matches:
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.”
Lomitapide: A Medication Use Evaluation and a Formulary Perspective.
Global journal on quality and safety in healthcare · 2024 · PMID 38725887 · PubMed ↗ · all extracted evidence
Matches:
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.”
Matches:
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]).”

Show all 46 publications →