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Underutilization of cascade screening for familial hypercholesterolemia

Underutilization of cascade screening for familial hypercholesterolemia

Why cascade screening for familial hypercholesterolemia. Cascade screening in the context of dyslip- idemia refers to cholesterol testing of close relatives of individuals who fulfill genetic or phenotypic criteria for the diagnosis of famil- ial hypercholesterolemia (FH).

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Familial hypercholesterolaemia (FH)

Familial hypercholesterolaemia (FH)

Why is cholesterol important? Cholesterol, with other fats such as triglycerides, plays a vital role in the structure and function of cells. However, too much cholesterol in the blood (hypercholesterolaemia) is a risk factor for early heart disease, heart attack and stroke. Cholesterol is transported…

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PCSK9 inhibition

PCSK9 inhibition

A raised level of low-density lipoprotein (LDL) cholesterol is one of the most important modifiable risk factors for cardiovascular disease. Despite success in recent decades in lowering LDL cholesterol with statins and other lipid-lowering drugs, a significant proportion of high risk patients fail to achieve…

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Unmet clinical needs in cholesterol lowering

Unmet clinical needs in cholesterol lowering

A high level of low-density lipoprotein (LDL) cholesterol, or ‘bad cholesterol’, is considered a major modifiable risk factor for cardiovascular disease. International guidelines state that lowering LDL cholesterol is one of most important interventions in reducing the risk of premature cardiovascular events.1-4 New insights from…

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The Rationale and Design of the CASCADE FH Registry: Expert Analysis

The Rationale and Design of the CASCADE FH Registry: Expert Analysis

Familial hypercholesterolemia (FH) is a genetic disease of elevated low-density lipoprotein cholesterol (LDL-C) that affects over one million people in the U.S.1 Left untreated, FH results in a 20-fold increase in the lifetime risk of premature coronary heart disease due to high LDL-C exposure from…

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Do we need to re-consider cholesterol treatment in primary prevention?

Do we need to re-consider cholesterol treatment in primary prevention?

High cholesterol is a major risk factor for atherosclerosis and coronary heart disease (CHD). However, many individuals with only mild to moderately elevated high cholesterol do not meet guideline criteria for treatment with statins. This poses a key question: Does prolonged exposure to only mild…

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Lowering LDL-C : at what level would this impact the benefit vs. risk ratio?

Lowering LDL-C : at what level would this impact the benefit vs. risk ratio?

Emeritus Research Professor, Institut de recherches cliniques de Montréal (IRCM), Canada Potent inhibitors of pro-protein convertase-subtilisin-kexin-9 (PCSK9) have the capacity to reduce plasma low-density lipoprotein cholesterol (LDL-C) to unprecedentedly low levels, especially if combined with statins. This discovery raises several important questions; how low should…

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FH

FH

2021: Integrated Guidance for Enhancing the Care of Familial Hypercholesterolaemia in Australia https://pubmed.ncbi.nlm.nih.gov/33309206/ 2021: Update of the Brazilian Guideline for Familial Hypercholesterolemia https://pubmed.ncbi.nlm.nih.gov/34709306/ 2019: NICE. Familial hypercholesterolaemia: identification and management https://www.guidelines.co.uk/genetic-conditions/nice-fh-guideline/453843.article 2018: Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia: Update 2018 https://pubmed.ncbi.nlm.nih.gov/30527143/ 2017: Guidelines…

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Highlights Report: 2014 FH Global Summit

Highlights Report: 2014 FH Global Summit

The FH Global Summit offers a unique opportunity for all players in the healthcare arena, academia, government and patient advocacy groups, to act together to catalyse progress in FH care. Sooner not later: Children are the driver for improving FH care Top of the agenda…

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PCSK9 inhibition

PCSK9 inhibition

A raised level of low-density lipoprotein cholesterol (LDL-C) is one of the most important risk factors for cardiovascular disease. Despite success in recent decades in lowering LDL-C with statins and other lipid-lowering drugs, considerable risk remains for future cardiovascular events even in people who are…

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FH detection in primary care: how can we do better?

FH detection in primary care: how can we do better?

FH is clearly underdiagnosed and undertreated.1  The question is how to best to address this challenge. FH is one of the most common genetically transmitted conditions, with about 1 in 200-250 people affected.1,2 In the UK, this translates to about 300,000 people affected ; however,…

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Low PCSK9 levels in CKD patients on haemodialysis

Low PCSK9 levels in CKD patients on haemodialysis

Serum PCSK9 levels are decreased in patients with chronic kidney disease (CKD) undergoing haemodialysis, thereby implying that PCSK9 plays a similar important role in regulating low-density lipoprotein cholesterol (LDL-C) levels in these patients, as in the general population. Abujrad H, Mayne J, Ruzicka M, Cousins…

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Dyslipidaemia management

Dyslipidaemia management

2021: Lipid Measurements in the Management of Cardiovascular Diseases: NLA Scientific Statement https://www.lipid.org/sites/default/files/files/JACL%201734(3).pdf 2021: Canadian Cardiovascular Society Guidelines for the Management of Dyslipidemia for the Prevention of Cardiovascular Disease in Adults. https://pubmed.ncbi.nlm.nih.gov/33781847/ 2021: Lipid-lowering and anti-thrombotic therapy in patients with peripheral arterial disease—European Atherosclerosis Society/European…

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IMPROVE-IT: Trial data follow through on genetics

IMPROVE-IT: Trial data follow through on genetics

An ATVB editorial implies that results from IMPROVE-IT could have been predicted by considering genetics data. In a previous report from the Myocardial Infarction Genetics Consortium Investigators,1 carriage of inactivating mutations that attenuate Niemann-Pick C1-like 1 (NPC1L1) function reduced both LDL cholesterol and also protected…

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Cascade Screening for FH: Lessons from Brazil

Cascade Screening for FH: Lessons from Brazil

How can we improve on the detection and treatment of FH? PCSK9 Forum Editor Professor Frederick Raal discusses insights from a recent study in Brazil. Familial hypercholesterolemia (FH) is the most common dominantly inherited condition in humans, affecting 1:200 to 1:500 people or over 30…

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Familial hypercholesterolaemia (FH)

Familial hypercholesterolaemia (FH)

Why is cholesterol important? Cholesterol, with other fats such as triglycerides, plays a vital role in the structure and function of cells. However, too much cholesterol in the blood (hypercholesterolaemia) is a risk factor for early heart disease, heart attack and stroke. Cholesterol is transported…

read more »
PlayFH issues in low to middle income regions

FH issues in low to middle income regions

Despite the availability of statins, treatment of familial hypercholesterolaemia (FH) is a significant issue with a high unmet need in a middle-income country, according to Dr Dirk Blom of Cape Town, South Africa. As a result, new novel therapies are urgently needed.

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Paediatric FH: do you need a genetic diagnosis?

Paediatric FH: do you need a genetic diagnosis?

Familial hypercholesterolaemia (FH) is characterised clinically by life-long elevated levels of low-density-lipoprotein cholesterol (LDL-C) and increased risk of premature cardiovascular disease.  FH is predominantly due to mutations in the gene encoding the LDL receptor, and less commonly to mutations in the APOB or PCSK9 genes….

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BMS-962476

BMS-962476

BMS-962476: First in man data

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Bococizumab

Bococizumab

March 30, 2014 1183 – Prevention: Familial Hypercholesterolemia, Novel Therapies and CV Risk Efficacy and Safety of Bococizumab (RN316/PF-04950615), a Monoclonal Antibody against Proprotein Convertase Subtilisin/Kexin Type 9 in Statin-Treated Hypercholesterolemic Subjects: Results from a Randomized, Placebo-Controlled, Dose-Ranging Study (NCT: 01592240) Session 1183-129, 9:45 -…

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