Familial Chylomicronemia Syndrome (FCS): Recent Data on Diagnosis and Treatment
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STATIN DRUGS (R CESKA, SECTION EDITOR)
Familial Chylomicronemia Syndrome (FCS): Recent Data on Diagnosis and Treatment Antonio Gallo 1 & Sophie Béliard 2 & Laura D’Erasmo 3 & Eric Bruckert 1
# Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Purpose of Review Familial chylomicronemia syndrome (FCS) is a rare recessive genetic disorder often underdiagnosed with potentially severe clinical consequences. In this review, we describe the clinical and biological characteristics of the disease together with its main complication, i.e., acute pancreatitis. We focused the paper on new diagnostic tools, progress in understanding the role of two key proteins (apolipoprotein CIII (apo CIII) and angiopoietin-like3 (ANGPTL-3)), and new therapeutic options. Recent Findings Recently, a new diagnostic tool has been proposed by European experts to help identify these patients. This tool with two recently identified parameters (low LDL and low body mass index) can help identify patients who should be genetically tested or who may have the disease when genetic testing is not available. FCS is caused by homozygous or compound heterozygous mutations of lipoprotein lipase, apolipoprotein C-II, apolipoprotein A-V, glycosylphosphatidylinositol anchored high-density lipoprotein-binding protein 1, and lipase maturation factor. Two proteins have been identified as important player in the metabolism of triglyceride-rich lipoprotein and its regulation. These two proteins are therapeutic target. Antisense oligonucleotide targeting apo CIII has been shown to significantly decrease triglyceride levels even in FCS and is the first available treatment for these patients. Further development might identify new compounds with reduced risk to develop severe thrombocytopenia. ANGPTL-3 inhibitors have not yet been tested in FCS patients but exert significant hypotriglyceridemic effect in the more frequent and less severe polygenic forms. Beyond these two new targets, microsomal triglyceride transfer protein (MTTP) inhibitors could also be part of the armamentarium, if on-going trials confirm their efficacy. Summary New clinical tools and simple criteria can help select patients with possible FCS and identify patients who should have a genetic testing. Identifying patients with FCS is a major issue since these patients have a high risk to suffer severe episodes of acute pancreatitis and may now benefit from new therapeutic options including antisense oligonucleotide targeting apo CIII. Keywords Familial chylomicronemia syndrome . Chylomicron . Pancreatitis . Apolipoprotein CIII . Angiopoietin-like3
Introduction Abnormal presence of chylomicron during fasting state, also called hyperchylomicronemia, can be observed in a variety of This article is part of the Topical Collection on Statin Drugs * Eric Bruckert [email protected] 1
Department of Endocrinology and Cardiovascular Disease Prevention, Assistance Publique-Hôpitaux de Paris, La Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France
2
Department of Nutrit
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