The multichallenges with Familiar Chylomicronemia Syndrome (FCS)

2020-12-01 kl. 12:00-13:00 (tisdag)
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2020-12-01 kl. 11:00 (tisdag)
Zoom webbseminarium
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Zoom webbseminarium 1 december 12:00-13:00

The multichallenges with Familiar Chylomicronemia Syndrome (FCS) – finding, diagnosing and treating the patient

Introduction: Clinical case

Part I: Molecular genetics of FCS

Stefano RomeoStefano Romeo, Professor in Molecular and Clinical Medicine, Sahlgrenska Academy, University of Gothenburg, Senior Consultant in Cardiology at Sahlgrenska University Hospital, Gothenburg.

Summary: Several individuals have high to very high levels of circulating triglycerides but very few of them have FCS with the genetic diagnosis in FCS remaining a challenge. Loss of function mutations in homozygosity in genes involved in catabolism of chylomicron/very low density lipoproiteins cause FCS mainly affecting lipoprotein lipase and its cofactors. An overview of the molecular mechanism underlying FCS and of the genes involved in the disease will be given in this lecture.


Part II: The Clinician’s View

Jonas BrinckJonas Brinck, MD PhD, Senior consultant Endocrinology, Department of Endocrinology, Karolinska University Hospital and Department of Medicine Huddinge, Karolinska Institute

Summary: Multifactorial chylomicronemia is vastly more common explanation to high levels of circulating triglycerides than the rare and more serious disorder FCS. The lecture will give an overview of common risk factors and co-morbidities associated with states of chylomicronima and how to differentiate between the two conditions. It will also give practical tips on how to perform a clinical FCS investigation and select patients for genetical testing. Treatment options for FCS will be discussed.


The meeting is arranged by Meductus with financial support from Akcea Therapeutics. 


Please view the recording of the meeting here: