A Case Series Assessing the Effects of Lomitapide on Carotid Intima-Media Thickness in Adult Patients with Homozygous Familial Hypercholesterolaemia in a Real-World Setting
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DOI: 10.1007/s12325-021-02031-y
Abstract: Homozygous familial hypercholesterolaemia (HoFH) is characterised by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) and results from multiple mutations in genes affecting the LDL receptor pathway. Patients are at risk of premature atherosclerotic cardiovascular… read more here.
Keywords: media thickness; familial hypercholesterolaemia; carotid intima; hofh ... See more keywords
Long-term outcome in 53 patients with homozygous familial hypercholesterolaemia in a single centre in France.
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DOI: 10.1016/j.atherosclerosis.2017.01.015
Abstract: BACKGROUND AND AIMS Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited condition characterized by elevated plasma low-density lipoprotein-cholesterol (LDL-C) levels, severe, accelerated atherosclerosis and premature coronary heart disease. We evaluated cardiovascular complications in HoFH patients… read more here.
Keywords: total cholesterol; familial hypercholesterolaemia; cholesterol; single centre ... See more keywords
High serum triglyceride concentrations in patients with homozygous familial hypercholesterolemia attenuate the efficacy of lipoprotein apheresis by dextran sulfate adsorption.
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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.
Keywords: system; familial hypercholesterolemia; reduction ldl; patients homozygous ... See more keywords
Quality of life and coping in Dutch homozygous familial hypercholesterolemia patients: A qualitative study.
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DOI: 10.1016/j.atherosclerosis.2022.03.015
Abstract: BACKGROUND AND AIMS Homozygous familial hypercholesterolemia (HoFH) is characterized by severely elevated low-density lipoprotein cholesterol (LDL-C) levels leading to extremely premature atherosclerotic cardiovascular disease. Therefore, healthcare professionals consider HoFH to have major impact on patients'… read more here.
Keywords: quality life; hofh; homozygous familial; familial hypercholesterolemia ... See more keywords
PCSK9 inhibitor therapy in homozygous familial defective apolipoprotein B-100 due to APOB R3500Q: A case report.
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DOI: 10.1016/j.jacl.2017.09.001
Abstract: Identification of a patient homozygous for familial defective apolipoprotein B-100(FDB) and successful treatment with PCSK9 inhibition. read more here.
Keywords: pcsk9 inhibitor; defective apolipoprotein; apolipoprotein 100; familial defective ... See more keywords
Homozygous familial hypercholesterolemia in a young woman with dual gene mutations of low-density lipoprotein receptor and proprotein convertase subtilisin/kexin type 9.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of clinical lipidology"
DOI: 10.1016/j.jacl.2020.01.009
Abstract: A 28-year-old woman with a rare combination of homozygous LDLR and heterozygous PCSK9 mutations had a phenotype consistent with homozygous familial hypercholesterolemia. She reported a clinical history of coronary and extracoronary atherosclerosis treated with 3… read more here.
Keywords: density lipoprotein; low density; familial hypercholesterolemia; woman ... See more keywords
Will evinacumab become the standard treatment for homozygous familial hypercholesterolemia?
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DOI: 10.1080/14712598.2021.1862083
Abstract: ABSTRACT Introduction: Homozygous Familial Hypercholesterolemia (HoFH) is a very severe genetic form of hypercholesterolemia. Lacking LDL receptors in the liver, subjects with HoFH have raised plasma levels of LDL cholesterol, and up to 100 times… read more here.
Keywords: hofh; hypercholesterolemia; treatment; cholesterol ... See more keywords
Evinacumab for the treatment of homozygous familial hypercholesterolemia
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DOI: 10.1080/17512433.2022.2047934
Abstract: ABSTRACT Introduction Hypercholesterolemia is mainly caused by abnormal lipoprotein metabolism and can increase the risk of cardiovascular disease. Angiopoietin-like protein 3 (ANGPTL3) can increase low-density lipoprotein cholesterol (LDL-C) and other lipids by inhibiting lipoprotein lipase… read more here.
Keywords: evinacumab treatment; hypercholesterolemia; familial hypercholesterolemia; homozygous familial ... See more keywords
Homozygous familial hypercholesterolemia and its treatment by inclisiran
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DOI: 10.1080/21678707.2020.1784721
Abstract: ABSTRACT Introduction Homozygous familial hypercholesterolemia (hoFH), a genetic disorder characterized by markedly impaired hepatic clearance of LDL and LDL cholesterol concentration exceeding 12 mmol/L, causes coronary artery and aortic valve disease before adulthood. The hoFH… read more here.
Keywords: treatment; ldl; pcsk9; familial hypercholesterolemia ... See more keywords
Aortic stenosis in homozygous familial hypercholesterolaemia: a paradigm shift over a century.
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DOI: 10.1093/eurheartj/ehac339
Abstract: AIMS Homozygous familial hypercholesterolaemia (HoFH) is an orphan disease defined by extreme elevations in low-density lipoprotein cholesterol, cutaneous xanthomas, and pre-mature atherosclerotic cardiovascular disease. Survival has more than doubled over the past three decades. Aortic… read more here.
Keywords: familial hypercholesterolaemia; hofh; aortic stenosis; homozygous familial ... See more keywords
New algorithms for treating homozygous familial hypercholesterolemia
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DOI: 10.1097/mol.0000000000000853
Abstract: Purpose of review We reviewed current and future therapeutic options for patients with homozygous familial hypercholesterolemia (HoFH) and place this evidence in context of an adaptable treatment algorithm. Recent findings Lowering LDL-C levels to normal… read more here.
Keywords: new algorithms; patients hofh; hypercholesterolemia; homozygous familial ... See more keywords