Integrated guidance on the care of familial hypercholesterolaemia 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.ijcard.2013.11.025

Cited by 316 publications

(209 citation statements)

References 195 publications

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“…РОССИЙСКИЙ ВЕСТНИК ПЕРИНАТОЛОГИИ И ПЕДИАТРИИ, 2017; 62: (5) ROSSIYSKIY VESTNIK PERINATOLOGII I PEDIATRII, 2017; 62: (5) мейной гиперхолестеринемией добились лишь в не-скольких странах: в Нидерландах выявлен примерно 71% больных с этой патологией, в Норвегии -43%, Исландии -19%, Швейцарии -13%, Великобрита-нии -12% [2,3,5]. В России диагноз «семейная гиперхолестери-немия» ставится крайне редко, отсутствует систе-ма выявления и учета больных в детском возрасте, а также низок уровень генетического консультиро-вания, в связи с чем истинная распространенность заболевания остается неизвестной [5].…”

Section: наследственные болезниunclassified

“…клинических признаков (ксан-тома сухожилий, липоидная дуга роговицы, ксантел-лазмы), зависящих от выраженности и длительности гиперхолестеринемии, и исследование генотипа, так как наличие определенных генетических мута-ций ведет к повышению уровня холестерина в крови и увеличивает риск развития сердечно-сосудистых заболеваний. В настоящее время для диагностики семейной гиперхолестеринемии у детей используют-ся следующие критерии: британские (Simon Broom Registry), голландские (DLCN -Dutch Lipid Clinic Network), американские (MEDPED -Make Early Diagnosis to Prevent Early Death) [2,3,[9][10][11]. Британские и голландские критерии основаны на фенотипиче-ских, семейных анамнестических данных и генети-ческих признаках.…”

Section: наследственные болезниunclassified

“…С целью выявления и обследования детей и под-ростков также широко используются рекомендации по лечению семейной гиперхолестеринемии между-народного общества International FH Foundation [2]. Согласно рекомендациям, для фенотипической ди-агностики следует применять пороговые значения уровня холестерина ЛПНП в плазме с учетом пола, возраста и страны проживания, а из-за биологической вариабельности следует учитывать среднее значение двух измерений уровня холестерина ЛПНП натощак.…”

Section: наследственные болезниunclassified

“…Как и взрослым пациентам, так и детям наря-ду с фенотипической и генетической диагностикой необходимо провести полную оценку риска сердеч-но-сосудистых заболеваний, включая определение уровня артериального давления, индекса массы тела, уровня гликемии и липопротеина А [2,23,24]. Нали-чие какого-либо из перечисленных дополнительных факторов риска или других состояний высокого ри-ска в детском возрасте, например сахарного диабета, синдрома Кавасаки или хронических заболеваний почек, может служить показанием к назначению бо-лее интенсивной липидоснижающей терапии.…”

Section: наследственные болезниunclassified

“…Очевидно, что лечение больных должно опираться на уровень липидов в плазме и общую оценку риска сердечно-сосудистых заболеваний, а не на резуль-таты генетического анализа. Целевыми значениями уровня холестерина ЛПНП в плазме для детей следу-ет считать менее 4,0 ммоль/л для детей 8-10 лет и ме-нее 3,5 ммоль/л для детей старше 10 лет; показатели для мальчиков и девочек не различаются [2].…”

Section: наследственные болезниunclassified

See 4 more Smart Citations

Statin treatment of children with familial hypercholesterolemia – Trying to balance incomplete evidence of long-term safety and clinical accountability: Are we approaching a consensus?

Vuorio¹,

Docherty²,

Humphries³

et al. 2013

Atherosclerosis

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Section: наследственные болезниunclassified

See 3 more Smart Citations

Statin treatment of children with familial hypercholesterolemia – Trying to balance incomplete evidence of long-term safety and clinical accountability: Are we approaching a consensus?

Vuorio¹,

Docherty²,

Humphries³

et al. 2013

Atherosclerosis

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Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia

et al. 2020

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ImportanceFamilial hypercholesterolemia (FH) is an underdiagnosed and undertreated genetic disorder that leads to premature morbidity and mortality due to atherosclerotic cardiovascular disease. Familial hypercholesterolemia affects 1 in 200 to 250 people around the world of every race and ethnicity. The lack of general awareness of FH among the public and medical community has resulted in only 10% of the FH population being diagnosed and adequately treated. The World Health Organization recognized FH as a public health priority in 1998 during a consultation meeting in Geneva, Switzerland. The World Health Organization report highlighted 11 recommendations to address FH worldwide, from diagnosis and treatment to family screening and education. Research since the 1998 report has increased understanding and awareness of FH, particularly in specialty areas, such as cardiology and lipidology. However, in the past 20 years, there has been little progress in implementing the 11 recommendations to prevent premature atherosclerotic cardiovascular disease in an entire generation of families with FH.ObservationsIn 2018, the Familial Hypercholesterolemia Foundation and the World Heart Federation convened the international FH community to update the 11 recommendations. Two meetings were held: one at the 2018 FH Foundation Global Summit and the other during the 2018 World Congress of Cardiology and Cardiovascular Health. Each meeting served as a platform for the FH community to examine the original recommendations, assess the gaps, and provide commentary on the revised recommendations. The Global Call to Action on Familial Hypercholesterolemia thus represents individuals with FH, advocacy leaders, scientific experts, policy makers, and the original authors of the 1998 World Health Organization report. Attendees from 40 countries brought perspectives on FH from low-, middle-, and high-income regions. Tables listing country-specific government support for FH care, existing country-specific and international FH scientific statements and guidelines, country-specific and international FH registries, and known FH advocacy organizations around the world were created.Conclusions and RelevanceBy adopting the 9 updated public policy recommendations created for this document, covering awareness; advocacy; screening, testing, and diagnosis; treatment; family-based care; registries; research; and cost and value, individual countries have the opportunity to prevent atherosclerotic heart disease in their citizens carrying a gene associated with FH and, likely, all those with severe hypercholesterolemia as well.

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Association of the Interaction Between Familial Hypercholesterolemia Variants and Adherence to a Healthy Lifestyle With Risk of Coronary Artery Disease

et al. 2022

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IMPORTANCE Familial hypercholesterolemia variants impair clearance of cholesterol from the circulation and increase risk of coronary artery disease (CAD). The extent to which adherence to a healthy lifestyle is associated with a lower risk of CAD in carriers and noncarriers of variants warrants further study. OBJECTIVETo assess the association of the interaction between familial hypercholesterolemia variants and adherence to a healthy lifestyle with risk of CAD. DESIGN, SETTING, AND PARTICIPANTSThis cross-sectional study used 2 independent data sets with gene sequencing and lifestyle data from the UK Biobank: a case-control study of 4896 cases and 5279 controls and a cohort study of 39 920 participants. Participants were recruited from 22 sites across the UK between March 21, 2006, and October 1, 2010. The case-control study included participants with CAD and controls at enrollment. The cohort study used a convenience sample of individuals with available gene sequencing data. Statistical analysis was performed from April 2, 2019, to January 20, 2022. EXPOSURES Pathogenic or likely pathogenic DNA variants classified by a clinical laboratory geneticist and adherence to a healthy lifestyle based on a 4-point scoring system (1 point for each of the following: healthy diet, regular exercise, not smoking, and absence of obesity). MAIN OUTCOMES AND MEASURES Coronary artery disease, defined as myocardial infarction inthe case-control study, and myocardial infarction, ischemic heart disease, or coronary revascularization procedure in the cohort study. RESULTSThe case-control study included 10 175 participants (6828 men [67.1%]; mean [SD] age, 58.6 [7.2] years), and the cohort study included 39 920 participants (18 802 men [47.1%]; mean [SD] age at the end of follow-up, 66.4 [8.0] years). A variant was identified in 35 of 4896 cases (0.7%) and 12 of 5279 controls (0.2%), corresponding to an odds ratio of 3.0 (95% CI, 1.6-5.9), and a variant was identified in 108 individuals (0.3%) in the cohort study, in which the hazard ratio for CAD was 3.8 (95% CI, 2.5-5.8). However, this risk appeared to vary according to lifestyle categories in both carriers and noncarriers of familial hypercholesterolemia variants, without a significant interaction between carrier status and lifestyle (odds ratio, 1.2 [95% CI, 0.6-2.5]; P = .62). Among carriers, a favorable lifestyle conferred 86% lower risk of CAD compared with an unfavorable lifestyle (hazard ratio, 0.14 [95% CI, 0.04-0.41]). The estimated risk of CAD by the age of 75 years varied according to lifestyle, ranging from 10.2% among noncarriers with a favorable lifestyle to 24.0% among noncarriers with an unfavorable lifestyle and ranging from 34.5% among carriers with a favorable lifestyle to 66.2% among carriers with an unfavorable lifestyle.

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

Cited by 316 publications

References 195 publications

Statin treatment of children with familial hypercholesterolemia – Trying to balance incomplete evidence of long-term safety and clinical accountability: Are we approaching a consensus?

Statin treatment of children with familial hypercholesterolemia – Trying to balance incomplete evidence of long-term safety and clinical accountability: Are we approaching a consensus?

Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia

Association of the Interaction Between Familial Hypercholesterolemia Variants and Adherence to a Healthy Lifestyle With Risk of Coronary Artery Disease

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