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Plasma Lipoproteins in Familial Hepatic Lipase Deficiency

Plasma Lipoproteins in Familial Hepatic Lipase Deficiency 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. Trlglycerlde enrichment of low density and high density lipoproteins was Identified as the constitutive phenotype. β-very low density lipoproteln was observed In hepatic llpase-deflclent subjects, but It was absent when the plasma trlglycerlde concentration was less than 1 mM/l. The hepatic llpase-deflclent subjects had normal or elevated low density lipoproteln cholesterol and high density lipoproteln cholesterol concentrations. Hyperprebetalipoprotelnemla, hyperbetallpoprotelnemla, and hyperalphallpoproteinemla were observed In both affected and unaffected family members. Compared with the unaffected family members, the hepatic lipase-deflclent subjects had no significant differences In very low density lipoproteln cholesterol, very low density lipoproteln trlglycerlde, or low density lipoproteln cholesterol. These observations are consistent with the presence of additional genes causing hyperilp-Idemla In this family, independent of the deficiency of hepatic lipase. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Arteriosclerosis Wolters Kluwer Health

Plasma Lipoproteins in Familial Hepatic Lipase Deficiency

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Copyright
© 1990 by American Heart Association, Inc.
ISSN
0276-5047

Abstract

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. Trlglycerlde enrichment of low density and high density lipoproteins was Identified as the constitutive phenotype. β-very low density lipoproteln was observed In hepatic llpase-deflclent subjects, but It was absent when the plasma trlglycerlde concentration was less than 1 mM/l. The hepatic llpase-deflclent subjects had normal or elevated low density lipoproteln cholesterol and high density lipoproteln cholesterol concentrations. Hyperprebetalipoprotelnemla, hyperbetallpoprotelnemla, and hyperalphallpoproteinemla were observed In both affected and unaffected family members. Compared with the unaffected family members, the hepatic lipase-deflclent subjects had no significant differences In very low density lipoproteln cholesterol, very low density lipoproteln trlglycerlde, or low density lipoproteln cholesterol. These observations are consistent with the presence of additional genes causing hyperilp-Idemla In this family, independent of the deficiency of hepatic lipase.

Journal

Arteriosclerosis – Wolters Kluwer Health

Published: Jan 1, 1990

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