Hypertriglyceridemia (HTG) is a common dyslipidemia associated with an elevated risk of cardiovascular disease. For every 1 mmol/L (39 mg/dL) increase in particles rich in triglycerides (of genetic etiology), the risk of ischemic heart disease increases 3 times. Furthermore, HTG is a rare but well-documented cause of pancreatitis (acute or recurrent) which is associated with a poor prognosis. The risk of pancreatitis increases directly proportional to serum triglyceride levels once a certain threshold is exceeded. An adequate diagnosis of these alterations is essential for correct treatment based on the risk inherent to each HTG.
Although the vast majority of HTGs in the adult population have a complex polygenic basis where the cumulative effect of multiple independent variants (along with non-genetic factors) elevates triglyceride levels, there are some monogenic HTGs. A very high level of triglycerides (>900 mg/dL) may be due to hypertriglyceridemia caused by a specific genetic defect (monogenic disease) that is transmitted in an autosomal recessive manner. Monogenic hypertriglyceridemias are extremely rare and patients usually manifest severe hypertriglyceridemia from an early age, which can last a lifetime (as in familial chylomicronemia syndrome) or can normalize during childhood and adolescence (as in transient infantile hypertriglyceridemia).