Chylomicronemia syndrome is most often multifactorial, resulting from secondary forms of hypertriglyceridemia concurrent with genetic causes, and requires treatment approaches tailored to its cause.
This review highlights that chylomicronemia syndrome is most often multifactorial and outlines the distinct treatment approaches for its three major causes.
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.
Chait et al. (2019) conducted a review in Chylomicronemia syndrome. Chylomicronemia syndrome is most often multifactorial, resulting from secondary forms of hypertriglyceridemia concurrent with genetic causes, and requires treatment approaches tailored to its cause.