The Chylomicronemia Syndrome Is Most Often Multifactorial: A Narrative Review of Causes and Treatment

• Published in: Annals of internal medicine Vol. 170; no. 9; p. 626
• Main Authors: Chait, Alan, Eckel, Robert H
• Format: Journal Article
• Language: English
• Published: United States 07.05.2019
• Subjects: Algorithms; Angiopoietins - metabolism; Apolipoproteins - antagonists & inhibitors; Apolipoproteins - metabolism; Cardiovascular Diseases - etiology; Cardiovascular Diseases - prevention & control; Chylomicrons - metabolism; Fatty Acids, Omega-3 - therapeutic use; Fibric Acids - therapeutic use; Genetic Predisposition to Disease; Humans; Hyperlipoproteinemia Type I - etiology; Hyperlipoproteinemia Type I - metabolism; Hyperlipoproteinemia Type I - therapy; Hypertriglyceridemia - etiology; Hypertriglyceridemia - therapy; Hypolipidemic Agents - therapeutic use; Lipodystrophy, Familial Partial - complications; Lipoprotein Lipase - metabolism; Mutation; Oligonucleotides - therapeutic use; Pancreatitis - etiology; Pancreatitis - prevention & control; Receptors, Lipoprotein - genetics; Risk Factors
• ISSN: 1539-3704
• DOI: 10.7326/M19-0203

The chylomicronemia syndrome occurs when triglyceride levels are severely elevated (usually >16.95 mmol/L [1500 mg/dL]) and is characterized by such clinical features as abdominal pain, acute pancreatitis, eruptive xanthomas, and lipemia retinalis. It may result from 1 of 3 conditions: the presence of secondary forms of hypertriglyceridemia concurrent with genetic causes of hypertriglyceridemia, termed multifactorial chylomicronemia syndrome (MFCS); a deficiency in the enzyme lipoprotein lipase and some associated proteins, termed familial chylomicronemia syndrome (FCS); or familial partial lipodystrophy. Most chylomicronemia syndrome cases are the result of MFCS; FCS is very rare. In all these conditions, triglyceride-rich lipoproteins accumulate because of impaired plasma clearance. This review describes the 3 major causes of the chylomicronemia syndrome; their consequences; and the approaches to treatment, which differ considerably by group.