Putting Into Perspective the Hazards of Untreated Familial Hypercholesterolemia

Hopkins, Paul N.

doi:10.1161/jaha.117.006553

Cited by 7 publications

(3 citation statements)

References 23 publications

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“…Young men with FH have >25-fold increased relative risk of CAD compared with patients without FH ( Hopkins, 2017 ). A recent meta-analysis highlighted that FH was highly prevalent among patients with ASCVD (1 affected individual in 17 patients), an 18-fold higher frequency than in the general population ( Hu et al, 2020 ).…”

Section: Double-trouble: Fh and Hyper-lp(a) As Dual Risk Factorsmentioning

confidence: 99%

Familial Hypercholesterolemia and Elevated Lipoprotein(a): Cascade Testing and Other Implications for Contextual Models of Care

Loh

Chan

Mata³

et al. 2022

Front. Genet.

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Elevated lipoprotein(a) [Lp(a)], a predominantly genetic disorder, is a causal risk factor for atherosclerotic cardiovascular disease (ASCVD) and calcific aortic valvular disease, particularly in patients with familial hypercholesterolemia (FH), a Tier I genomic condition. The combination from birth of the cumulative exposure to elevated plasma concentrations of both Lp(a) and low-density lipoprotein is particularly detrimental and explains the enhanced morbidity and mortality risk observed in patients with both conditions. An excellent opportunity to identify at-risk patients with hyper-Lp(a) at increased risk of ASCVD is to test for hyper-Lp(a) during cascade testing for FH. With probands having FH and hyper-Lp(a), the yield of detection of hyper-Lp(a) is 1 individual for every 2.1–2.4 relatives tested, whereas the yield of detection of both conditions is 1 individual for every 3–3.4 relatives tested. In this article, we discuss the incorporation of assessment of Lp(a) in the cascade testing in FH as a feasible and crucial part of models of care for FH. We also propose a simple management tool to help physicians identify and manage elevated Lp(a) in FH, with implications for the care of Lp(a) beyond FH, noting that the clinical use of RNA therapeutics for specifically targeting the overproduction of Lp(a) in at risk patients is still under investigation.

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Section: Double-trouble: Fh and Hyper-lp(a) As Dual Risk Factorsmentioning

confidence: 99%

Familial Hypercholesterolemia and Elevated Lipoprotein(a): Cascade Testing and Other Implications for Contextual Models of Care

Loh

Chan

Mata³

et al. 2022

Front. Genet.

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“…The lifelong exposure to elevated LDL-C levels confers a substantially increased risk of premature cardiovascular disease (CVD) and associated mortality [2] to the 1 in 250 people affected worldwide [3]. While the introduction of pharmacological treatment has dramatically reduced the incidence of CVD in individuals with FH, they remain at increased risk [4][5][6][7]. The residual CVD risk may be attributed to the large number of adults and young people that do not reach LDL-C treatment targets, even on maximally tolerated doses [8,9].…”

Section: Introductionmentioning

confidence: 99%

Nutrition and physical activity intervention for families with familial hypercholesterolaemia: protocol for a pilot randomised controlled feasibility study

Kinnear

Shield

Stensel

et al. 2020

Pilot Feasibility Stud

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Background: Untreated heterozygous familial hypercholesterolaemia (FH) causes high low-density lipoprotein cholesterol (LDL-C) levels and increased cardiovascular disease (CVD) risk. Despite pharmacological treatment, many treated individuals remain at higher CVD risk than non-affected individuals. This may be due to LDL-C targets not being met and presence of other CVD risk factors. Adhering to dietary and physical activity (PA) recommendations developed for individuals with FH may further reduce CVD risk. However, there is insufficient research to support the efficacy of adhering to these guidelines on LDL-C and other CVD risk factors. The need for studies to investigate the effectiveness of nutrition and PA interventions in the FH population has been widely recognised and recommended. This paper describes the protocol of a pilot, randomised controlled trial designed to evaluate the feasibility and acceptability of a specifically developed nutrition and PA intervention aimed at improving the dietary intakes and PA levels of families with FH. Methods: A two-arm randomised waitlist-controlled pilot trial will be conducted across three National Health Service (NHS) sites in England, UK. Twenty-four young people with FH, aged 10-18 years, and their affected parent, will be recruited and randomly assigned to the intervention or waitlist and usual care control. The primary aim is to provide evidence for the feasibility and acceptability of delivering the intervention, explored quantitatively (rates of recruitment, retention and outcome measure completeness) and qualitatively (qualitative interviews). The secondary aim is to provide evidence for the potential efficacy of the intervention on dietary intake, PA, sedentary time, body composition, CVD risk factors and quality of life determined at baseline and endpoint assessments. The intervention will involve an hour-long consultation with a dietitian at baseline and four follow-up contacts across the 12-week intervention. It has been specifically developed for use with individuals with FH and incorporates behavioural change techniques to target identified enablers and barriers to adherence in this population.

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“…Aos 60 anos, esse risco aumenta para 85,4% para os homens e 56,5% para as mulheres 15 . A presença de variante genética patogênica em genes relacionados à homeostase do LDL-C pode aumentar o risco do desenvolvimento de DCV de 2 a 3 vezes mais comparado a não-portadores e que possuem o mesmo nível de LDL-C. Isto pode ocorrer devido ao portador de alteração genética estar exporto a um valor de LDL-C elevado na corrente sanguínea por mais tempo, evidenciando a importância do diagnóstico precoce e tratamento adequado 16,17 .…”

Section: Cinco Principais Causas De Morte No Mundo (2019)unclassified

Análise dos genes STAP1, APOE, ABCG5 e ABCG8 em pacientes hipercolesterolêmicos com diagnóstico molecular negativo para os genes LDLR, APOB e PCSK9

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Putting Into Perspective the Hazards of Untreated Familial Hypercholesterolemia

Cited by 7 publications

References 23 publications

Familial Hypercholesterolemia and Elevated Lipoprotein(a): Cascade Testing and Other Implications for Contextual Models of Care

Familial Hypercholesterolemia and Elevated Lipoprotein(a): Cascade Testing and Other Implications for Contextual Models of Care

Nutrition and physical activity intervention for families with familial hypercholesterolaemia: protocol for a pilot randomised controlled feasibility study

Análise dos genes STAP1, APOE, ABCG5 e ABCG8 em pacientes hipercolesterolêmicos com diagnóstico molecular negativo para os genes LDLR, APOB e PCSK9

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