Familial hypercholesterolaemia: history, diagnosis, screening, management and challenges

Genetic testing for familial hypercholesterolemia: Impact on diagnosis, treatment and cardiovascular risk

(2019) Seohyuk Lee et al.   European Journal of Preventive Cardiology

Moving Targets

(2019) Lars E. Larsen et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Incidence of Cardiovascular Disease in Patients with Familial Hypercholesterolemia Phenotype: Analysis of 5 Years Follow-Up of Real-World Data from More than 1.5 Million Patients

(2019) Luís Masana et al.   Journal of Clinical Medicine

2019 ESC/EAS Guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk

(2019) François Mach et al.   EUROPEAN HEART JOURNAL

20-Year Follow-up of Statins in Children with Familial Hypercholesterolemia

(2019) Ilse K. Luirink et al.   NEW ENGLAND JOURNAL OF MEDICINE

Reducing cardiovascular risk in patients with familial hypercholesterolemia: Risk prediction and lipid management

(2019) Marcio H. Miname et al.   PROGRESS IN CARDIOVASCULAR DISEASES

Association of Low-Density Lipoprotein Cholesterol With Risk of Aortic Valve Stenosis in Familial Hypercholesterolemia

(2019) Liv J. Mundal et al.   JAMA Cardiology

Relationship of Familial Hypercholesterolemia and High LDL Cholesterol to Ischemic Stroke: The Copenhagen General Population Study

(2018) Sabina Beheshti et al.   CIRCULATION

Impact of age on excess risk of coronary heart disease in patients with familial hypercholesterolaemia

(2018) Liv J Mundal et al.   HEART

The complex molecular genetics of familial hypercholesterolaemia

(2018) Amanda J. Berberich et al.   Nature Reviews Cardiology

Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

(2018) Antonio J. Vallejo-Vaz et al.   ATHEROSCLEROSIS

Excess risk of peripheral arterial disease in familial hypercholesterolemia

(2018) L.J. Mundal et al.   ATHEROSCLEROSIS

Familial hypercholesterolemia and risk of peripheral arterial disease and chronic kidney disease

(2018) Frida Emanuelsson et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Coronary heart disease mortality in severe vs. non-severe familial hypercholesterolaemia in the Simon Broome Register

(2018) Steve E. Humphries et al.   ATHEROSCLEROSIS

Alirocumab and Cardiovascular Outcomes after Acute Coronary Syndrome

(2018) Gregory G. Schwartz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia

(2017) Hayato Tada et al.   EUROPEAN HEART JOURNAL

Genetic testing for familial hypercholesterolaemia is essential in individuals with high LDL cholesterol: who does it in the world?

(2017) Børge G. Nordestgaard et al.   EUROPEAN HEART JOURNAL

Familial hypercholesterolaemia in patients with ischaemic stroke or transient ischaemic attack

(2017) T. Toell et al.   EUROPEAN JOURNAL OF NEUROLOGY

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis

(2017) Joana Rita Chora et al.   GENETICS IN MEDICINE

Evolocumab and Clinical Outcomes in Patients with Cardiovascular Disease

(2017) Marc S. Sabatine et al.   NEW ENGLAND JOURNAL OF MEDICINE

Coronary Heart Disease, Peripheral Arterial Disease, and Stroke in Familial HypercholesterolaemiaHighlights

(2016) Leopoldo Pérez de Isla et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Lipid lowering drug therapy in patients with coronary heart disease from 24 European countries – Findings from the EUROASPIRE IV survey

(2016) Ž. Reiner et al.   ATHEROSCLEROSIS

Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217

(2016) Marianne Benn et al.   EUROPEAN HEART JOURNAL

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

(2016) Amit V. Khera et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Cardiovascular disease in patients with genotyped familial hypercholesterolemia in Norway during 1994–2009, a registry study

(2016) Liv Mundal et al.   European Journal of Preventive Cardiology

Cardiovascular disease mortality in patients with genetically verified familial hypercholesterolemia in Norway during 1992–2013

(2016) Liv Mundal et al.   European Journal of Preventive Cardiology

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment

(2015) Albert Wiegman et al.   EUROPEAN HEART JOURNAL

Universal Screening for Familial Hypercholesterolemia in Children

(2015) Gašper Klančar et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype–phenotype relationship, and clinical outcome

(2014) Barbara Sjouke et al.   EUROPEAN HEART JOURNAL

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society

(2013) B. G. Nordestgaard et al.   EUROPEAN HEART JOURNAL

Familial Hypercholesterolemia in the Danish General Population: Prevalence, Coronary Artery Disease, and Cholesterol-Lowering Medication

(2012) Marianne Benn et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study

(2008) A. Neil et al.   EUROPEAN HEART JOURNAL

Correlating corneal arcus with atherosclerosis in familial hypercholesterolemia

(2008) Loren A Zech et al.   Lipids in Health and Disease