In this relatively common (~1 in 500), likely polygenic disorder, increased plasma VLDL causes elevated plasma triglyceride concentrations. Obesity, hyperglycemia, and hyperinsulinemia are characteristic, and diabetes mellitus, ethanol consumption, oral contraceptives, and hypothyroidism may exacerbate the condition. The diagnosis is suggested by the triad of elevated plasma triglycerides (2.8-11.3 mmol/L [250-1000 mg/dL]), normal or only mildly increased cholesterol levels (<6.5 mmol/L [<250 mg/dL]), and reduced plasma HDL. Secondary forms of hypertriglyceridemia due to the conditions listed above should be ruled out before making the diagnosis of familial hypertriglyceridemia. The identification of other first-degree relatives with hypertriglyceridemia is useful in making the diagnosis. Familial dysbetalipoproteinemia and familial combined hyperlipidemia (FCHL) should be ruled out, as these two conditions are associated with accelerated atherosclerosis.
Section 13. Endocrinology and Metabolism