Integrated guidance on the care of familial hypercholesterolemia from the International FH Foundation

Watts, Gerald F.; Gidding, Samuel S.; Wierzbicki, Anthony S.; Tóth, Peter P.; Alonso, Rodrigo; Brown, W. Virgil; Bruckert, Éric; Defesche, Joep C.; Lin, Khoo Kah; Livingston, Michael; Mata, Pedro; Parhofer, Klaus G.; Raal, Frederick J.; Santos, Raúl D.; Sijbrands, Eric J.G.; Simpson, William G.; Sullivan, David; Сусеков, А. В.; Tomlinson, Brian; Wiegman, Albert; Yamashita, Shizuya; Kastelein, John J.P.

doi:10.1016/j.jacl.2014.01.002

Cited by 108 publications

(109 citation statements)

References 195 publications

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“…Another important issue when assessing the severity of the FH phenotype is the age at initiation of treatment, later treatment, for instance after 40 years of age 3,5,30 , implies a longer exposure of the arterial wall to high LDL-C and consequently a greater risk of ASCVD.…”

Section: Late Treatment Onset and Refractorinessmentioning

confidence: 99%

“…concentrations and an average three to thirteen-fold greater risk of premature atherosclerotic cardiovascular disease (ASCVD) compared to normolipidemic individuals [1][2][3] . FH has been subclassified into heterozygous (He) and homozygous (Ho) forms depending on the presence of one or two affected alleles in genes encoding the LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin kexin type 9 (PCSK9) 1,3 .…”

Section: Introduction: Challenging Classical Concepts In Familial Hypmentioning

confidence: 99%

“…FH has been subclassified into heterozygous (He) and homozygous (Ho) forms depending on the presence of one or two affected alleles in genes encoding the LDL receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin kexin type 9 (PCSK9) 1,3 . Clinical diagnosis is made on the basis of elevated LDL-C levels: HeFH and HoFH patients usually present with LDL-C levels two-to three-fold and up to ten-fold higher than normal, respectively 3,4 . With the exception of regions where founder effects are present (e.g.…”

Section: Introduction: Challenging Classical Concepts In Familial Hypmentioning

confidence: 99%

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Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel

Santos

Gidding

Hegele

et al. 2016

The Lancet Diabetes & Endocrinology

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346

230

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Familial hypercholesterolaemia is common in individuals who had a myocardial infarction at a young age. As many as one in 200 people could have heterozygous familial hypercholesterolaemia, and up to one in 300 000 individuals could be homozygous. The phenotypes of heterozygous and homozygous familial hypercholesterolaemia overlap considerably; the response to treatment is also heterogeneous. In this Review, we aim to define a phenotype for severe familial hypercholesterolaemia and identify people at highest risk for cardiovascular disease, based on the concentration of LDL cholesterol in blood and individuals' responsiveness to conventional lipid-lowering treatment. We assess the importance of molecular characterisation and define the role of other cardiovascular risk factors and advanced subclinical coronary atherosclerosis in risk stratification. Individuals with severe familial hypercholesterolaemia might benefit in particular from early and more aggressive cholesterol-lowering treatment (eg, with PCSK9 inhibitors). In addition to better tailored therapy, more precise characterisation of individuals with severe familial hypercholesterolaemia could improve resource use

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Section: Late Treatment Onset and Refractorinessmentioning

confidence: 99%

Section: Introduction: Challenging Classical Concepts In Familial Hypmentioning

confidence: 99%

Section: Introduction: Challenging Classical Concepts In Familial Hypmentioning

confidence: 99%

See 1 more Smart Citation

Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel

Santos

Gidding

Hegele

et al. 2016

The Lancet Diabetes & Endocrinology

Self Cite

346

230

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“…En nuestro medio, los médicos pediatras especialistas en Nutrición infantil serían los recomendados. 14,30,31 Los fármacos utilizados en el tratamiento de las dislipidemias se agrupan de la siguiente manera:…”

Section: Tratamiento Farmacológicounclassified

Consenso sobre manejo de las dislipidemias en pediatría

Nutrición¹

2015

Arch Argent Pediat

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RESUMENEste documento, dirigido a médicos pediatras, de familia, especialistas en nutrición, entre otros, tiene por objetivos trasmitir los lineamientos para el diagnóstico temprano y el tratamiento de dislipidemias en pediatría y concientizar al pediatra sobre la prevención de la enfermedad cardiovascular del adulto. La aterosclerosis es un proceso progresivo, que comienza en la infancia, y las dislipidemias pertenecen al grupo de factores de riesgo que aceleran su evolución. Se propone el tamizaje universal de dislipidemias a los 6 años y a los 17 años, y selectivo a partir de los 2 años si existen factores de riesgo o enfermedad predisponente. Se recomienda el dosaje de colesterol total, LDL, HDL y triglicéridos con ayuno previo. El tratamiento de las dislipidemias en pediatría tiene el objetivo de disminuir el riesgo de eventos cardiovasculares prematuros en el caso de hipercolesterolemias y disminuir el riesgo de pancreatitis en el caso de hipertrigliceridemias graves. El pediatra deberá abordar el tamizaje, diagnóstico e implementación de medidas hipolipemiantes. Los pacientes con niveles más elevados deberán derivarse a especialistas con experiencia en tratamientos farmacológicos. Palabras clave: dislipidemias, hipercolesterolemia, hipertrigliceridemia, tamizaje, tratamiento. ABSTRACTThis document is intended for pediatricians, family, nutritionists and others. It aimed to convey the guidelines for early diagnosis and treatment of dyslipidemia in children and sensitize the pediatrician to the prevention of cardiovascular disease in adults. Atherosclerosis is a gradual process that begins in childhood and dyslipidemia belongs to the group of risk factors that accelerate their evolution. Universal screening for dyslipidemia at 6 years and 17 years is proposed; selective screening after 2 years is recommended if there are risk factors or predisposing disease. Assay of total cholesterol, LDL, HDL and triglycerides is recommended, prior fasting. Treatment of dyslipidemia in children aims to reduce the risk of premature cardiovascular events in the case of hypercholesterolemia, and decreasing the risk of pancreatitis in the case of severe hypertriglyceridemia. The pediatrician should address screening, diagnosis and implementation of lipid-lowering measures. Patients with higher levels should be referred to specialists with expertise in drug therapy.

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“…12 Treatment is optimally begun at 8 to 10 years of age in heterozygotes and at diagnosis in homozygotes with regular follow-up thereafter. 10,13,14 Primordial prevention of nonlipid risk factors can be provided early, before additive effects of the interaction of high LDL-C levels with obesity, tobacco use, and physical inactivity mount up. Cost benefit analyses suggest that substantial savings may accrue with cascade screening and early diagnosis.…”

mentioning

confidence: 99%