Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus …
BG Nordestgaard, MJ Chapman… - European heart …, 2013 - academic.oup.com
Aims The first aim was to critically evaluate the extent to which familial
hypercholesterolaemia (FH) is underdiagnosed and undertreated. The second aim was to …
hypercholesterolaemia (FH) is underdiagnosed and undertreated. The second aim was to …
The complex molecular genetics of familial hypercholesterolaemia
AJ Berberich, RA Hegele - Nature Reviews Cardiology, 2019 - nature.com
Familial hypercholesterolaemia is the most commonly encountered genetic condition that
predisposes individuals to premature cardiovascular disease. Nevertheless, most patients …
predisposes individuals to premature cardiovascular disease. Nevertheless, most patients …
Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia
Abstract Background: Approximately 7% of American adults have severe
hypercholesterolemia (untreated low-density lipoprotein [LDL] cholesterol≥ 190 mg/dl) …
hypercholesterolemia (untreated low-density lipoprotein [LDL] cholesterol≥ 190 mg/dl) …
Association of monogenic vs polygenic hypercholesterolemia with risk of atherosclerotic cardiovascular disease
Importance Monogenic familial hypercholesterolemia (FH) is associated with lifelong
elevations in low-density lipoprotein cholesterol (LDL-C) levels and increased risk of …
elevations in low-density lipoprotein cholesterol (LDL-C) levels and increased risk of …
Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in …
M Benn, GF Watts, A Tybjærg-Hansen… - European heart …, 2016 - academic.oup.com
Aims Ideally, familial hypercholesterolaemia (FH) is diagnosed by testing for mutations that
decrease the catabolism of low-density lipoprotein (LDL) cholesterol; however, genetic …
decrease the catabolism of low-density lipoprotein (LDL) cholesterol; however, genetic …
[HTML][HTML] Disorders of lipid metabolism. Clinical Guidelines 2023
MV Ezhov, VV Kukharchuk… - Russian Journal of …, 2023 - russjcardiol.elpub.ru
Disorders of lipid metabolism. Clinical Guidelines 2023 | Ezhov | Russian Journal of
Cardiology Russian Journal of Cardiology eng | рус User ISSN 1560-4071 (Print) ISSN …
Cardiology Russian Journal of Cardiology eng | рус User ISSN 1560-4071 (Print) ISSN …
[HTML][HTML] Нарушения липидного обмена. Клинические рекомендации 2023
МВ Ежов, ВВ Кухарчук, ИВ Сергиенко… - Российский …, 2023 - cyberleninka.ru
При участии: Национального общества по изучению атеросклероза (НОА), Российской
ассоциации эндокринологов (РАЭ), Российского общества кардиосоматической …
ассоциации эндокринологов (РАЭ), Российского общества кардиосоматической …
Risk of premature atherosclerotic disease in patients with monogenic versus polygenic familial hypercholesterolemia
M Trinder, X Li, ML DeCastro, L Cermakova… - Journal of the American …, 2019 - jacc.org
Background: A pathogenic variant in LDLR, APOB, or PCSK9 can be identified in 30% to
80% of patients with clinically-diagnosed familial hypercholesterolemia (FH). Alternatively,∼ …
80% of patients with clinically-diagnosed familial hypercholesterolemia (FH). Alternatively,∼ …
[HTML][HTML] Familial hypercholesterolemia: the most frequent cholesterol metabolism disorder caused disease
A Benito-Vicente, KB Uribe, S Jebari… - International journal of …, 2018 - mdpi.com
Cholesterol is an essential component of cell barrier formation and signaling transduction
involved in many essential physiologic processes. For this reason, cholesterol metabolism …
involved in many essential physiologic processes. For this reason, cholesterol metabolism …
Universal screening for familial hypercholesterolemia in children
Background: Individuals with familial hypercholesterolemia (FH) who are untreated have up
to 100-fold elevated risk for cardiovascular complications compared with those who are …
to 100-fold elevated risk for cardiovascular complications compared with those who are …