Severe hypertriglyceridemia: role of familial and acquired disorders.

To evaluate the role of familial and secondary factors in the etiology of severe hypertriglyceridemia, family studies were performed and potential secondary causes of hypertriglyceridemia were evaluated in 54 patients with plasma triglyceride levels above 2000 mg/dl. Every subject had hypertriglyceridemic relatives, compatible with a familial form of hyperlipidemia, although plasma triglyceride levels in the relatives were substantially lower than in the index patients. In 5 index patients, both parents had hyperlipidemia. Four of these 5 had no coexisting secondary cause for hypertriglyceridemia. Forty-six of the remaining 49 (94%) also had potential secondary causes of hypertriglyceridemia, most commonly untreated diabetes mellitus. These findings suggest that severe hypertriglyceridemia frequently results from the coexistence of familial and secondary forms of hyperlipidemia.