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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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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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Does PCSK9 inhibition on top of statin therapy offer the possibility of further reducing plaque burden?

Does PCSK9 inhibition on top of statin therapy offer the possibility of further reducing plaque burden?

Stephen J Nicholls MBBS PhD South Australian Health and Medical Research Institute, University of Adelaide, Australia Technical advances in arterial wall imaging have enabled the visualization of the full burden of atherosclerotic plaque. When applied in serial imaging studies of anatomically matched arterial segments, it…

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AHA Scientific Sessions 2014: The Editors view of Day 2

AHA Scientific Sessions 2014: The Editors view of Day 2

PCSK9 Forum Editor Professor Derick Raal, University of the Witwatersrand, South Africa, discusses posters presented to date. Since the arrival of the PCSK9 inhibitors, there has been a resurgence of interest in lipids in the poster sessions with a dedicated “lipid lane” which was very…

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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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The FH enigma: are there other FH-causing genes?

The FH enigma: are there other FH-causing genes?

A genetic diagnosis is established in about 80% of patients with FH. The question is what is the genetic basis for FH in the remaining cases. A recent study1 used whole exome sequencing of FH patients negative for LDLR, APOB or PCSK9 mutations, in an…

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CVD Prevention

CVD Prevention

2021: ESC Guidelines on cardiovascular disease prevention in clinical practice https://pubmed.ncbi.nlm.nih.gov/34458905/ 2019: ACC/AHA Guideline on the Primary Prevention of Cardiovascular Disease: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines https://pubmed.ncbi.nlm.nih.gov/30894318/ 2013: ACC/AHA Lifestyle management to prevent CVD…

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PCSK9 and plaque: trials

PCSK9 and plaque: trials

Recent trials have shown that the PCSK9 monoclonal antibodies lower LDL cholesterol by more than 50% on top of statin therapy. There is also evidence that serum PCSK9 is associated with carotid intima-media thickness, a surrogate for atherosclerosis. Lee CJ, Lee YH, Park SW et…

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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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Enhancing and Improving cardiovascular outcomes

Enhancing and Improving cardiovascular outcomes

Implications from IMPROVE-IT: Perspective from Anthony S. Wierzbicki* The link between low density lipoprotein-cholesterol (LDL-C) and cardiovascular disease (CVD) is well established 1 2 . Statins are the first-line drug therapy for the treatment of lipid-associated CVD risk. However the role of second line therapies…

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