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We have studied the lipoproteins, apolipoproteins, and postheparin lipase activities in an extended pedigree with familial hepatic lipase deficiency. A deficiency of hepatic lipase was found in three of five brothers and in one of their children. Triglyceride enrichment of low density and high density lipoproteins was identified as the constitutive phenotype. beta-very low density lipoprotein was observed in hepatic lipase-deficient subjects, but it was absent when the plasma triglyceride concentration was less than 1 mM/l. The hepatic lipase-deficient subjects had normal or elevated low density lipoprotein cholesterol and high density lipoprotein cholesterol concentrations. Hyperprebetalipoproteinemia, hyperbetalipoproteinemia, and hyperalphalipoproteinemia were observed in both affected and unaffected family members. Compared with the unaffected family members, the hepatic lipase-deficient subjects had no significant differences in very low density lipoprotein cholesterol, very low density lipoprotein triglyceride, or low density lipoprotein cholesterol. These observations are consistent with the presence of additional genes causing hyperlipidemia in this family, independent of the deficiency of hepatic lipase.

Plasma lipoproteins in familial hepatic lipase deficiency.