Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study

A Guerin, I Iatan, I Ruel, LF Ngufor… - … Medical Association Open …, 2023 - cmajopen.ca
Background: Familial hypercholesterolemia (FH) is associated with premature
atherosclerotic cardiovascular disease caused by elevated low-density lipoprotein …

A Clinically Validated Genetic Screening for Familial Hypercholesterolemia in Quebec

A Guerin, JB Riviere, LF Ngufor, I Ruel, J Genest… - Journal of Clinical …, 2022 - Elsevier
Lead Author's Financial Disclosures Nothing to disclose. Study Funding None.
Background/Synopsis Familial Hypercholesterolemia (FH) is the most common genetic …

[HTML][HTML] Prevalence of cardiovascular events in genetically confirmed versus unconfirmed familial hypercholesterolaemia

TZ Khan, J Breen, E Neves… - … Cardiology Science & …, 2020 - ncbi.nlm.nih.gov
Introduction: Genetic testing for familial hypercholesterolaemia (FH) is not yet established for
widespread use internationally to provide diagnostic confirmation, in part due to high cost …

[HTML][HTML] Genetic testing increases the likelihood of a diagnosis of familial hypercholesterolaemia among people referred to lipid clinics: Danish national study

BS Hedegaard, CS Bork, HL Kanstrup, KK Thomsen… - Atherosclerosis, 2023 - Elsevier
Background and aims It is unclear to what extent genetic testing improves the ability to
diagnose familial hypercholesterolaemia (FH). We investigated the percentage with FH …

A Clinically Validated Genetic Screening for Familial Hypercholesterolemia in Québec

I Iatan, A Guerin, J Rivière, L Ngufor, I Ruel… - Canadian Journal of …, 2021 - Elsevier
BACKGROUND Familial Hypercholesterolemia (FH) is the most common genetic disorder in
humans with an estimated prevalence of 1/311. In geographic regions with founder effect …

Founder effects facilitate genotyping approach to molecular diagnosis in familial hypercholesterolaemia in Sweden

P Benedek, H Jiao, K Duvefelt, T Skoog… - …, 2021 - atherosclerosis-journal.com
Methods: 300 unrelated patients of Swedish origin with clinical suspicion of heterozygous
FH, scored according to the Dutch Lipid Clinics Network (DLCN) criteria, were analyzed …

[HTML][HTML] Patient perspectives regarding genetic testing for familial hypercholesterolemia

M Marchand, V Chen, M Trinder, L Cermakova… - CJC open, 2021 - Elsevier
Background Familial hypercholesterolemia (FH) is a common genetic disorder resulting in
high levels of low-density lipoprotein cholesterol and increased risk of atherosclerotic …

[BOOK][B] Barriers to Care in Familial Hypercholesterolemia

A Guerin - 2022 - search.proquest.com
Background: Familial Hypercholesterolemia (FH) is associated with premature
atherosclerotic cardiovascular disease caused by excessive accumulation of LDL-C in …

Molecular screening of familial hypercholesterolemia in Icelanders

G Kellogg, B Thorsson, Y Cai, R Wisotzkey… - … Journal of Clinical …, 2020 - Taylor & Francis
Familial hypercholesterolemia (FH) is a monogenic disease characterized by a lifelong
exposure to high LDL-C levels that can lead to early onset coronary heart disease (CHD) …

Analysis of routine molecular genetic diagnostics of familial hypercholesterolemia at tertiary care lipid clinics

M Ferch, L Galli, P Fellinger, H Esterbauer… - European Heart …, 2023 - academic.oup.com
Background Familial hypercholesterolemia (FH) is an autosomal dominant genetic disease,
causing dyslipidemia and premature atherosclerotic cardiovascular disease (ASCVD), with …