Hypertriglyceridemia (HTG), classically defined as fasting plasma triacylglycerols (triglycerides, TG) > 2.3 mM or 200 mg/dl, or 1.7 mM (150 mg/dl) in the definition of metabolic syndrome , is a common laboratory finding. Severe hypertriglyceridemia, e.g., TG > 20 mM (1772 mg/dl), is much rarer and almost always caused by a combination of inherited and secondary factors [2, 3]. Genetic disorders leading to hypertriglyceridemia include familial combined hyperlipidemia, familial hypertriglyceridemia, remnant removal disease (Type 3 dyslipidemia), deficiencies of lipoprotein lipase or apolipoprotein CII, and more recently characterized mutations including variants of apolipoprotein A5 [4, 5]. The most common secondary contributors to severe hypertriglyceridemia include poorly controlled diabetes mellitus, obesity, high fat and simple carbohydrate diet, excess alcohol consumption, hypothyroidism, and medications including thiazide diuretics, β-blockers, oral estrogen, retinoids, and anti-retroviral agents [2, 3].
Patients with severe HTG may present with classic findings such as abdominal pain or overt pancreatitis, eruptive or palmar xanthomas, lipemia retinalis, or they may be asymptomatic [2, 3]. The most significant complication of severe HTG is acute pancreatitis, which may lead to pancreatic necrosis and death [2, 6]. The incidence of classic signs and symptoms of HTG, including pancreatitis, however, has not been determined in patients presenting with severe HTG. In addition, the level of plasma triglycerides at which acute pancreatitis can be ascribed specifically to the presence of HTG has not been reported.
The purpose of this study was to determine the frequency of physical signs and symptoms of HTG including pancreatitis among patients with severe HTG referred to a specialty lipid disorders clinic over a 21-year period. Specifically, our study attempted to determine: (a) the frequency of classical signs and symptoms associated with severe HTG; (b) the most common secondary factors contributing to TG > 20 mM (1772 mg/dl); (c) differences in treatment for severe HTG between referring physicians and lipid clinic specialists; and (d) changes in the lipid profile of patients with severe HTG followed at a specialty lipid clinic. Overall, we found an absence of pancreatitis unless TG were > 20 mM, a relatively low incidence of classic clinical findings of HTG such as eruptive xanthomas, the presence of diabetes or pre-diabetes in the majority of HTG subjects, and a tendency of non-lipid specialists to overutilize statins and underutilize fibrates as their first-line treatment for severe HTG.