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Familial Hypercholesterolaemia

Can we improve FH detection: Learning from the Dutch

Can we improve FH detection: Learning from the Dutch

This programme is discussed by Dr Peter Lansberg of the Department of Vascular Medicine at the Academic Medical Center, Amsterdam.  He is the founder and former Director of the Dutch National FH Cascade Screening Programme. Dr Lansberg suggests that there are lessons for other countries…

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New Simon Broome register data: Mortality benefit of statins in men with familial hypercholesterolaemia but women lag behind

New Simon Broome register data: Mortality benefit of statins in men with familial hypercholesterolaemia but women lag behind

Updated data from this UK register of familial hypercholesterolaemia (FH, inherited high cholesterol) show that statin treatment has reduced coronary heart disease (CHD) mortality. However, patients with FH, especially women, still remain at high risk of CHD death. These findings highlight unmet clinical needs in the…

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Alirocumab effective against the spectrum of mutations causative for familial hypercholesterolaemia

Alirocumab effective against the spectrum of mutations causative for familial hypercholesterolaemia

Alirocumab treatment was effective in patients heterozygous for mutations in LDLR, APOB, and PCSK9 genes. This analysis investigated the efficacy of alirocumab in 1191 patients with familial hypercholesterolaemia (FH, inherited high cholesterol) included in 6 trials; 758 were treated with alirocumab. One or more specific…

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Familial hypercholesterolaemia-causing mutations prevalent in ACS

Familial hypercholesterolaemia-causing mutations prevalent in ACS

According to this Spanish study, one in 10 patients aged < 65 years with an acute coronary syndrome and elevated LDL cholesterol levels has a mutation causative for familial hypercholesterolaemia (FH, inherited high cholesterol). The study assessed the prevalence of mutations in 7 genes (LDLR,…

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Study reinforces the importance of cascade screening in families with familial hypercholesterolaemia

Study reinforces the importance of cascade screening in families with familial hypercholesterolaemia

The risk of cardiovascular events was about 2-fold higher in relatives of patients with familial hypercholesterolaemia (FH, inherited high cholesterol) with an LDL receptor mutation identified by cascade screening, compared with the general population. While the high cardiovascular risk associated with FH is well recognized…

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PCSK9 inhibition reduces tendon xanthomas

PCSK9 inhibition reduces tendon xanthomas

A short report shows the benefit of LDL cholesterol lowering with a PCSK9 inhibitor in reducing tendon xanthomas in patients with familial hypercholesterolaemia (FH, inherited high cholesterol). Tendon xanthomas are among the clinical signs of FH in some, but not all, patients, resulting from the…

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Cardiovascular risk in familial hypercholesterolaemia: Consider also the presence of subclinical disease

Cardiovascular risk in familial hypercholesterolaemia: Consider also the presence of subclinical disease

Inclusion of ultrasound evaluation for carotid plaques may have relevance in assessment of cardiovascular risk in familial hypercholesterolemia (FH, inherited high cholesterol) beyond LDL cholesterol and family history of premature coronary heart disease, according to this Italian study. In total, the study included 263 patients…

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How many familial hypercholesterolemia patients are eligible for PCSK9 inhibition?

How many familial hypercholesterolemia patients are eligible for PCSK9 inhibition?

Familial hypercholesterolemia (FH, inherited high cholesterol) is a high cardiovascular risk condition. Despite this, the extent of undertreatment is well recognized, with less than one in 5 patients attaining LDL cholesterol goal on maximally tolerated statin plus ezetimibe therapy (1). With the availability of PCSK9…

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PlayCould PCSK9 inhibitors be used in FH children?

Could PCSK9 inhibitors be used in FH children?

Prof Philip Barter gives his view.

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First data on familial hypercholesterolaemia in China

First data on familial hypercholesterolaemia in China

Most of the information relating to familial hypercholesterolaemia (FH, inherited high cholesterol) is from Caucasian populations. In Northern Europe, about 1 in 200-250 individuals have FH; results from the US are similar (1,2). However, there are many ‘black holes’ where there is no information on…

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PCSK9 inhibitor evolocumab approved in Hong Kong

PCSK9 inhibitor evolocumab approved in Hong Kong

Evolocumab has now been approved by the Hong Kong Department of Health for use as an adjunct to diet and statin therapy for the treatment of adults with familial hypercholesterolaemia (FH, inherited high cholesterol) – both heterozygous and homozygous FH – or adults with clinical…

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New debate on lipid screening in children and adolescents

New debate on lipid screening in children and adolescents

Experts have weighed in following publication of the US Preventive Services Task Force recommendations, which concluded that there was insufficient evidence to assess the balance of benefits and harms of screening for lipid disorders in children and adolescents up to 20 years. To read the…

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Screening for Lipid Disorders in Children and Adolescents: A view from PCSK9 Forum Editors

Screening for Lipid Disorders in Children and Adolescents: A view from PCSK9 Forum Editors

Gerald F Watts, University of Western Australia, Perth, Australia Heterozygous familial hypercholesterolaemia (FH, inherited high cholesterol) starts as an asymptomatic disorder characterized by markedly elevated LDL cholesterol levels and untreated leads to accelerated atherosclerosis and cardiovascular disease. Typically, individuals may be only diagnosed in the…

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ICD10 codes for familial hypercholesterolaemia: An important first step

ICD10 codes for familial hypercholesterolaemia: An important first step

After more than 3 years in discussion, International Classification of Diseases (ICD) 10TH Edition codes for familial hypercholesterolaemia (FH, inherited high cholesterol) have now been approved. Two codes will come into force on 1st October this year: E78.01: Familial hypercholesterolemia  AND Z83.42:  Family history of…

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Why do we need a definition for severe forms of familial hypercholesterolemia?

Why do we need a definition for severe forms of familial hypercholesterolemia?

Raul D. Santos MD, PhD on behalf of the International Atherosclerosis Society Panel on Severe Familial Hypercholesterolemia, discusses why this is critical to the best current use of PCSK9 inhibitors in clinical practice. Familial hypercholesterolemia (FH, inherited high cholesterol) is common in individuals who suffer…

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EAS Congress Innsbruck: Mixed results with novel agents in homozygous FH

EAS Congress Innsbruck: Mixed results with novel agents in homozygous FH

The Clinical Late breaker session reported on three agents with potential for the management of homozygous familial hypercholesterolaemia (FH, inherited high cholesterol). One of these – evinacumab (REGN1500), a human monoclonal antibody to angiopoietin-like protein 3 (ANGPTL3) – showed interesting results in a small proof-of-concept study…

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ACC 2016: Late Breaker underscores the value of genetic testing in ascertaining coronary risk in FH

ACC 2016: Late Breaker underscores the value of genetic testing in ascertaining coronary risk in FH

A key paper for the familial hypercholesterolaemia (FH, inherited high cholesterol) community was presented at the clinical Latebreaker session. According to PCSK9 Forum Board member, Professor Gerald Watts, University of Western Australia, Perth, Australia, the paper by Khera and co-workers not only confirms the higher…

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Finding FH: the USA needs to do better

Finding FH: the USA needs to do better

PCSK9 Forum interviewed Professor Gerald Watts, University of Western Australia, Perth, Australia and Dr Peter Lansberg, Academic Medical Center, Amsterdam, The Netherlands about the implications of the USA study estimating FH prevalence, reported in News (1): Familial hypercholesterolaemia affects 1 in 250 people in USA…

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Familial hypercholesterolaemia affects 1 in 250 people in USA

Familial hypercholesterolaemia affects 1 in 250 people in USA

Familial hypercholesterolaemia (FH, inherited high cholesterol) is as common in the USA as in Europe, according to findings based on the US National Health and Nutrition Examination Surveys (NHANES). In the study, the authors evaluated data from 36,949 adults (aged 20 years or more) in…

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FH and PCSK9: Perspective from Japan

FH and PCSK9: Perspective from Japan

Evolocumab recently received approval in Japan for the treatment of patients with familial hypercholesterolemia (FH, inherited high cholesterol) or hypercholesterolaemia who are at high risk of cardiovascular events and do not adequately respond to statins. Here, Professor Harada-Shiba, Osaka, Japan discusses the importance of this…

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