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Published in 2018 at "Cochrane Database of Systematic Reviews"
DOI: 10.1002/14651858.cd012985
Abstract: This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: The purpose of this review is to assess the effectiveness of interventions to systematically improve identification of FH in non-specialist settings… read more here.
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Published in 2020 at "Journal of Clinical Apheresis"
DOI: 10.1002/jca.21839
Abstract: Severe familial hypercholesterolaemia (FH) causes premature disability and death due to atherosclerotic cardiovascular disease and is refractory to standard lipid‐lowering therapies. Lipoprotein apheresis (LA) has long been a standard of care for patients with severe… read more here.
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Published in 2022 at "Advances in Therapy"
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.
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Published in 2017 at "Atherosclerosis"
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.
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Published in 2018 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2018.01.040
Abstract: BACKGROUND AND AIMS Familial hypercholesterolaemia (FH) is underdiagnosed in children. In addition to lipid concentrations, lipoprotein particle quantity and quality could influence cardiovascular risk. We aimed to perform a comprehensive plasma lipid study, including lipoprotein… read more here.
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Published in 2018 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2018.05.037
Abstract: BACKGROUND AND AIMS Familial hypercholesterolaemia (FH) is an autosomal dominant lipoprotein disorder characterized by significant elevation of low-density lipoprotein cholesterol (LDL-C) and markedly increased risk of premature cardiovascular disease (CVD). Because of the very high… read more here.
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Published in 2019 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2019.11.012
Abstract: Background and aims For children with heterozygous familial hypercholesterolaemia (HeFH), European guidelines recommend consideration of statin therapy by age 8–10 years for those with a low density lipoprotein cholesterol (LDL-C) >3.5 mmol/l, and dietary and… read more here.
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Published in 2021 at "Atherosclerosis"
DOI: 10.1016/j.atherosclerosis.2021.03.035
Abstract: BACKGROUND AND AIMS We aimed to validate a nurse-led process using electronic health records to identify those at risk of familial hypercholesterolaemia (FH) for genetic diagnosis in primary care. METHODS Those at risk of FH… read more here.
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Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-83392-w
Abstract: Familial hypercholesterolaemia increases circulating LDL-C levels and leads to premature cardiovascular disease when undiagnosed or untreated. Current guidelines support genetic testing in patients complying with clinical diagnostic criteria and cascade screening of their family members.… read more here.
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Published in 2020 at "Current Medical Research and Opinion"
DOI: 10.1080/03007995.2020.1734783
Abstract: Abstract Objective: Familial hypercholesterolaemia (FH) is a common autosomal dominant inherited disease, affecting 1 in 200−500 individuals worldwide. FH is characterized by elevated circulating low-density lipoprotein cholesterol (LDL-C) concentrations. Its association with increased risk of… read more here.
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Published in 2022 at "European heart journal"
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.