Cardiology Endocrinology Interactive e-learning

Improving management through genetic testing for Familial Hypercholesterolaemia

Prof. Christie M. Ballantyne

Dr Alain Carrié

Dr Eric Bruckert

Dr Christine Eng

Publication Date

Sep 2021

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This e-learning course addresses a need for improved understanding of the diagnosis and management of Familial Hypercholesterolaemia (FH), particularly through the use of genetic testing.

Learning outcomes

On completion of this e-learning course you will have an understanding of:

Key aspects of genetic testing in Familial Hypercholesterolaemia (FH)
How and why to test
How to interpret results
How to treat patients with FH
How to use cascade screening to identify related individuals at risk

Target audience

Cardiologists and Lipidologists

Summary of content

Heterozygous Familial Hypercholesterolaemia affects approximately 1 in 200–500 births, and patients with this hereditary disease are at markedly higher risk of cardiovascular disease. Early diagnosis and screening are key for improving outcomes in FH patient and yet rates of diagnosis of FH remain low in most parts of the world. Learn more about FH, its diagnosis and management alongside four global experts in the field by taking this e-learning course.

Expert contributors

Prof. Alain Carrié, University Hospital Pitié Salpêtrière, Paris, France
Prof. Eric Bruckert, University Hospital Pitié Salpêtrière, Paris, France
Prof. Christie Ballantyne, Baylor College of Medicine, Houston, USA
Prof. Christine Eng, Baylor College of Medicine, Houston, USA

Duration of training

Duration of training: It is expected that you will need at least one hour to review the full content of this training before you will be able to take the final assessment in order to receive 1 ECMEC^®.

An expert in the area of cholesterol, statins and heart disease prevention. His research interest in the prevention of heart disease has led him to become an established investigator for the American Heart Association. Additionally, he has several National Institute of Health (NIH) grants to study leukocyte-endothelial adhesion molecules and novel markers for atherosclerosis. Previous accomplishments include honoured as Fellow of the American Association for the Advancement of Science, the American College of Cardiology and the American College of Physicians. In 2014, Thomson Reuters recognised Christie as one of “The World’s Most Influential Scientific Minds”. Over 600 publications in the area of atherosclerosis, lipids and inflammation. Christie also serves as an Editorial Director for www.lipidsonline.org as well as Associate Editor for Circulation and The Journal of Cardiovascular Risk.

Medical Doctor specialising in molecular genetics recruited to Pitié Salpêtrière Hospital in 2001. Since then, he has implemented the genetic testing of Familial Hypercholesterolemia (FH). Member of the ClinGen FH Expert Panel dedicated to the annotation of the potential pathogenicity of molecular variants associated with FH. Scheme organiser of the FH External Quality Assessment provided by the European Molecular Genetics Quality Network

Medical Doctor and University Professor Past President of the French Society of Atherosclerosis Member and/or co-chair of EAS consensus statement on heterozygous Familial Hypercholesterolemia (2012), homozygous hypercholesterolemia (2015 ) statin intolerance (2014) Familial Hypercholesterolemia in children (2015) and Fasting / non-fasting blood samples (2016).

A paediatrician and medical geneticist, Dr Eng joined Baylor in 2000. She has been recognized for contributions to the implementation of genomics in clinical practice. Senior author of articles in the NEJM and JAMA regarding exome sequencing and is principal investigator of the Genomic Sequencing Core for the NIH Undiagnosed Diseases Network. Received a BA from Yale University and an MD from Tulane University School of Medicine.