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Published in 2023 at "Clinical cardiology"
DOI: 10.1002/clc.24059
Abstract: Familial hypercholesterolemia (FH) is a hereditary condition caused by mutations in the lipid pathway. The goal in managing FH is to reduce circulating low-density lipoprotein cholesterol and, therefore, reduce the risk of developing atherosclerotic cardiovascular… read more here.
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Published in 2018 at "Journal of Clinical Apheresis"
DOI: 10.1002/jca.21601
Abstract: Familial hypercholesterolemia (FH) is a genetic disease with very high levels of circulating low density lipoprotein cholesterol (LDL‐C) levels that leads to accelerated atherosclerosis. Lipoprotein apheresis is an effective treatment option for patients with FH… read more here.
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Published in 2024 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2410
Abstract: Familial hypercholesterolemia (MIM: PS143890) is a genetic disorder characterized by an increase in blood cholesterol. LDLR is one of the genes which their defect contributes to the disorder. Affected individuals may carry a heterozygous variant… read more here.
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Published in 2019 at "Heart and Vessels"
DOI: 10.1007/s00380-019-01400-6
Abstract: Familial hypercholesterolemia (FH) is reportedly associated with the development of coronary artery disease (CAD), especially acute coronary syndrome (ACS). However, the prevalence of FH in patients with stable CAD is still unclear. The aim of… read more here.
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Published in 2021 at "Advances in Therapy"
DOI: 10.1007/s12325-020-01608-3
Abstract: Familial hypercholesterolemia (FH) is a genetic disorder characterized by a high level of low-density lipoprotein cholesterol (LDL-C) and is an important cause for premature cardiovascular disease. Because of underdiagnoses, an acute event is often the… read more here.
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Published in 2025 at "Advances in Therapy"
DOI: 10.1007/s12325-025-03160-4
Abstract: Homozygous familial hypercholesterolemia (HoFH) is a severe rare genetic disorder characterized by elevated plasma low-density lipoprotein (LDL) cholesterol levels. Here, we report data from the Italian cohort of the Evinacumab Lipid Studies in Patients with… read more here.
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Published in 2024 at "Journal of Community Genetics"
DOI: 10.1007/s12687-024-00725-8
Abstract: Familial Hypercholesterolemia (FH) is an inherited disorder that significantly increases an individual’s risk of developing premature cardiovascular disease (CVD). Early intervention involving lifestyle modification and medication is crucial in preventing CVD. Prior studies have shown… read more here.
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Published in 2017 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2017.03.021
Abstract: BACKGROUND AND AIMS Patients with familial hypercholesterolemia (FH) are often characterized by premature coronary artery disease (CAD) with heterogeneity at onset. The aim of the present study was to investigate the associations of lipoprotein (a)… read more here.
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Published in 2017 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2017.05.015
Abstract: Background and aims Familial hypercholesterolemia (FH) is a common inherited disorder of low density lipoprotein-cholesterol (LDL-C) metabolism. It is associated with higher risk of premature coronary heart disease. Around 60% of patients with a clinical… read more here.
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Published in 2018 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2018.01.005
Abstract: BACKGROUND AND AIMS Maximizing the acute reduction of LDL-cholesterol (C) and lipoprotein (a) (Lp(a)) concentrations in patients with homozygous familial hypercholesterolemia (HoFH) is the main goal of lipoprotein apheresis (LA). The objective of this study… read more here.
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Published in 2018 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2018.05.040
Abstract: BACKGROUND AND AIMS Familial hypercholesterolemia (FH) is under-diagnosed and under-treated in most of the world, including Canada. National registries play a key role in identifying patients with FH, understanding gaps in care, and advancing the… read more here.