Prevalence and management of familial hypercholesterolaemia in patients with acute coronary syndromes

Nanchen, David; Gencer, Baran; Auer, Reto; Räber, Lorenz; Stefanini, Giulio G.; Klingenberg, Roland; Schmied, Christian; Cornuz, Jacques; Müller, Olivier; Vogt, Pierre; Jüni, Peter; Matter, Christian M.; Windecker, Stephan; Lüscher, Thomas F.; Mach, François; Rodondi, Nicolas

doi:10.1093/eurheartj/ehv289

Cited by 133 publications

(126 citation statements)

References 29 publications

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“…The present analysis was performed within the ELIPS (Multidimensional PreventIon Program After Acute Coronary Syndrome) study (NCT01075867). ELIPS is a subproject of the ongoing, prospective, multicenter, and observational SPUM‐ACS (Special Program University Medicine‐Acute Coronary Syndromes) cohort aiming to assess the quality of care and the adherence to the recommended preventive targets in 4 academic centers in Switzerland: Bern, Geneva, Lausanne, and Zurich . For this analysis, we considered all ACS patients who were enrolled between 2009 and 2014 and survived 1 year after the index event hospitalization with available data on lipid values and lipid‐lowering therapies as well as data on the occurrence of clinical outcomes at 1‐year follow‐up.…”

Section: Methodsmentioning

confidence: 99%

“…At baseline, levels for total cholesterol, high‐density lipoprotein cholesterol and triglycerides were measured from the first available fasting sample within 24 hours of hospital admission. LDL‐C was calculated using the Friedewald equation when triglycerides were below 4.5 mmol/L . One year after hospitalization, blood lipid levels were measured at the scheduled follow‐up visit in a fasting‐state.…”

Section: Methodsmentioning

confidence: 99%

“…One year after hospitalization, blood lipid levels were measured at the scheduled follow‐up visit in a fasting‐state. Clinical diagnosis of FH was based on the recommended Dutch Lipid Clinic Network (DLCN) algorithm (Table ) . Variables included personal and family history of premature cardiovascular disease and LDL‐C levels at baseline.…”

Section: Methodsmentioning

confidence: 99%

“…(Table ) . As done previously, only patients with normal triglycerides (<2.3 mmol/L) received scoring for elevated LDL‐C levels as recommended by the DLCN score for FH diagnosis …”

Section: Methodsmentioning

confidence: 99%

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Eligibility for PCSK9 Inhibitors According to American College of Cardiology (ACC) and European Society of Cardiology/European Atherosclerosis Society (ESC/EAS) Guidelines After Acute Coronary Syndromes

Gencer

Koskinas

Räber

et al. 2017

JAHA

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BackgroundThe American College of Cardiology (ACC) and European Society of Cardiology/European Atherosclerosis Society (ESC/EAS) have recently published recommendations for the use of proprotein convertase subtilisin/kexin‐9 (PCSK9) inhibitors in situations of very high risk. We aim to assess in the real world the suitability of PCSK9 inhibitors for acute coronary syndromes.Methods and ResultsWe analyzed a prospective Swiss cohort of 2023 patients hospitalized for acute coronary syndromes between 2009 and 2014 with available data for low‐density lipoprotein cholesterol and lipid‐lowering therapy at 1 year. Clinical familial hypercholesterolemia was defined using the Dutch Lipid Clinic Network algorithm as unlikely, possible, probable, or definite. We simulated a fixed relative reduction of 24% in low‐density lipoprotein cholesterol levels at 1 year in all patients not treated with ezetimibe, irrespective of the low‐density lipoprotein cholesterol levels and statin regimen. At 1 year, 94.3% of patients were treated with statin, 5.8% with ezetimibe, and 35.8% of patients had on‐target low‐density lipoprotein cholesterol levels (<1.8 mmol/L); 25.6% met criteria for possible or probable/definite familial hypercholesterolemia. After a simulation of the lipid‐lowering effect of ezetimibe, the proportion of patients who would be eligible for PCSK9 inhibitors at 1 year was 13.4% using American College of Cardiology criteria and 2.7% using European Society of Cardiology/European Atherosclerosis Society criteria. Patients with possible or probable/definite familial hypercholesterolemia were more eligible for PCSK9 inhibitors compared with their non–familial hypercholesterolemia counterparts: 27.6% versus 8.8% according to American College of Cardiology criteria and 6.6% versus 1.8% according to European Society of Cardiology/European Atherosclerosis Society criteria (P<0.001).ConclusionsRecommendations made by the American College of Cardiology guidelines would lead to 5‐fold higher eligibility rates for PCSK9 inhibitors compared to the European Society of Cardiology/European Atherosclerosis Society consensus statement in acute coronary syndrome patients.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

“…(Table ) . As done previously, only patients with normal triglycerides (<2.3 mmol/L) received scoring for elevated LDL‐C levels as recommended by the DLCN score for FH diagnosis …”

Section: Methodsmentioning

confidence: 99%

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Eligibility for PCSK9 Inhibitors According to American College of Cardiology (ACC) and European Society of Cardiology/European Atherosclerosis Society (ESC/EAS) Guidelines After Acute Coronary Syndromes

Gencer

Koskinas

Räber

et al. 2017

JAHA

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“…Оценка распространенности этой патологии проводится исследователями и в России, как у пациентов до клинического проявления атеросклероза, так и у больных с диагностированной ишемической болезнью сердца, что подтверждает значимость её своевременной диагностики [2,3]. Нередко первым клиническим проявлением данной про-блемы у молодых больных становится именно острый коронарный синдром (ОКС) [4]. Прове-дение генетического тестирования с целью выяв-ления СГ в подобных случаях возможно лишь в отсроченном порядке и не всегда выявляет при-чинную мутацию.…”

Section: Introductionunclassified

Coronary Angiography in Patients With Premature Acute Coronary Syndrome and Family Hypercholesterolemia

Averkova¹,

Бражник²,

Koroleva³

et al. 2017

Journal of Clinical Practice

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Резюме. Семейная гиперлипидемия (СГ) -это аутосомно-доминантное генетическое заболе-вание с частотой встречаемости в общей популяции от 1/200 до 1/500. Целью данной работы стала оценка особенностей поражения коронарного русла при остром коронарном синдроме (ОКС) у больных молодого возраста (мужчины в возрасте ≤55 лет, женщины в возрасте ≤60 лет) в зависимости от наличия СГ, диагностированной по критериям Голландских липидных клиник (I) и регистра Simone-Broome (II). В исследование включено 224 пациента на базе ГБУЗ ГКБ №51 ДЗМ, поступивших в стационар по поводу ОКС, которым проведена коронароангиография. По данным исследования у 12 из 13 (92,3%) больных с определенной/вероятной СГ (I, p=0,036) и у 28 из 29 (96,6%) пациентов с вероятной СГ (II, p=0,001) имелось 2,3-сосудистое/поражение ствола левой коронарной артерии (ЛКА). У 54 из 73 (74%) больных с трехсосудистым/пораже-нием ствола ЛКА была отягощена наследственность (p=0,024). При сравнении пациентов с кон-центрацией ЛПНП выше и ниже 4,6 ммоль/л, определенной методом ROC анализа, оказалось, что у 20 из 29 (69%) и у 58 из 144 (40,3%) (p=0,036) больных соответственно наблюдался тром-боз артерии, кровоснабжающей инфарктную зону, что позволяет предполагать, что для пациен-тов с более высоким уровнем ЛПНП характерно наличие именно осложненной атеросклеротиче-ской бляшки в случае развития ОКС. Таким образом, с наличием тяжелого (распространенного) поражения коронарных артерий у молодых больных с ОКС и СГ оказались связаны оба основ-ных показателя, используемых для негенетической диагностики СГ: повышенный уровень холе-стерина ЛПНП и отягощенная наследственность.Ключевые слова: семейная гиперлипидемия, острый коронарный синдром Abstract. Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder with a prevalence of 1/200-1/500 in the general population. The aim of the study was to assess the specific features of coronary angiography in young patients with acute coronary syndrome (ACS) and FH diagnosed using Dutch Lipid Clinic Network (I) and Simone Broome Register (II) criteria. 224 pts with early onset of ACS who underwent coronary angiography were selected (≤ 55 years of age for men and ≤ 60 years of age for women). Two, three vessel disease/left coronary artery (LCA) impairment was observed in 12 of 13 (92,3%) pts with definite/possible FH (I, p=0,036) and in 28 of 29 (96,6%) pts with probable FH (II, p=0,001). In patients with family history of cardiovascular disease three ves-

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Strategies for screening for familial hypercholesterolaemia in primary care and other community settings

Qureshi

Silva

Abdul-Hamid

et al. 2021

Cochrane Database of Systematic Reviews

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Prevalence and management of familial hypercholesterolaemia in patients with acute coronary syndromes

Abstract: A phenotypic diagnosis of possible FH is common in patients hospitalized with ACS, particularly among those with premature ACS. Optimizing long-term lipid treatment of patients with FH after ACS is required.

Cited by 133 publications

References 29 publications

Eligibility for PCSK9 Inhibitors According to American College of Cardiology (ACC) and European Society of Cardiology/European Atherosclerosis Society (ESC/EAS) Guidelines After Acute Coronary Syndromes

Eligibility for PCSK9 Inhibitors According to American College of Cardiology (ACC) and European Society of Cardiology/European Atherosclerosis Society (ESC/EAS) Guidelines After Acute Coronary Syndromes

Coronary Angiography in Patients With Premature Acute Coronary Syndrome and Family Hypercholesterolemia

Strategies for screening for familial hypercholesterolaemia in primary care and other community settings

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