Causes, clinical findings and therapeutic options in chylomicronemia syndrome, a special form of hypertriglyceridemia

Figures

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  Fig. 1. Differential diagnosis of hypertriglyceridemias. Differential diagnosis of elevated triglyceride levels and separation of monogenic and polygenic forms can be challenging in the everyday clinical practice. Secondary forms should be excluded, then characteristics of the monogenic form have to be assessed including childhood onset, resistance to therapy, and severe hypertriglyceridemia exceeding 10 mmol/l. Only a small portion of patients with hypertriglyceridemia present chylomicronemia, and, from these, FCS is a rarity. It should also be noted, that genetic and environmental factors may modify the phenotype and the clinical features of any form

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  Fig. 2. Structure of the lipolytic complex. Lipoprotein lipase (LPL) plays a key role in lipid metabolism. Apolipoprotein (apo) C2 serves as an activator of the enzyme, while lipase maturation factor-1 (LMF1) plays a role in the formation of the proper structure of LPL and regulates its expression. Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) mediates the transport of LPL into the capillary endothelial cells and anchores it on their surface. ApoA5 stabilizes the LPL-apoC2 complex by promoting endothelial surface binding of triglyceride-rich lipoproteins to heparan sulfate proteoglycan (HSPG). ApoC3 and angiopoietin-like proteins (ANGPTL) 3, 4 and 8 inhibit the activity of LPL

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  Fig. 3. Common symptoms of familial chylomicronemia. Presence of eruptive xantomata and lipemic plasma with milky appearance are characteristic, although not specific features of familial chylomicronemia. Ophthalmological examination may reveal lipemia retinalis. Other symptoms may also be present including abdominal pain, flatulency indigestion and foggy headedness, with acute pancreatitis being the most severe complication