The heterozygote state for LPL deficiency was associated with reduced LPL activity and mass, variable expressions of hyperlipidemia (p<0.03), and significantly reduced HDL cholesterol (p<0.01).
Observational (n=61)
Can the measurement of LPL activity and mass accurately identify the heterozygote state for LPL deficiency?
Measurement of LPL activity and mass can identify the heterozygote state for LPL deficiency, which is associated with hyperlipidemia and reduced HDL cholesterol, suggesting it may represent a subset of familial combined hyperlipidemia.
p-value: p=<0.01
Because there are no characteristic clinical or biochemical manifestations, the heterozygote state for lipoprotein lipase (LPL) deficiency has been difficult to detect. Measurements of postheparin plasma LPL activity and of LPL mass were performed in six families of probands with LPL deficiency to characterize the heterozygote state. LPL mass was measured in a sandwich enzyme-linked immunosorbent assay (ELISA) using a monoclonal antibody (5D2) that had been produced against bovine milk LPL. Thirteen obligate heterozygotes from these families had reduced LPL activity and mass below the 95th percent confidence limits of 34 normal controls, while one obligate heterozygote had LPL activity and mass between the 90th and 95th percent confidence limits. Potential heterozygotes in these families were identified as normal (n = 8) or heterozygotes (n = 6) by comparison to the 95th percent confidence limits of the controls. Some relatives in four of the six families exhibited mild hyperlipidemia, similar to the pattern seen in familial combined hyperlipidemia (FCHL). The hyperlipidemia segregated with the heterozygote state for LPL deficiency in these families (p less than 0.03). High density lipoprotein (HDL) cholesterol was significantly reduced in the heterozygotes for LPL deficiency (p less than 0.01). The measurement of LPL activity and mass allows identification of the heterozygote state for LPL deficiency, which is characterized by variable expressions of hyperlipidemia and reduced HDL cholesterol. These results suggest that the heterozygote state for LPL deficiency may form one subset of FCHL.
Babirak et al. (Mon,) conducted a observational in Lipoprotein lipase (LPL) deficiency (n=61). Heterozygote state for LPL deficiency vs. Normal controls was evaluated on Hyperlipidemia and high density lipoprotein (HDL) cholesterol levels (p=<0.01). The heterozygote state for LPL deficiency was associated with reduced LPL activity and mass, variable expressions of hyperlipidemia (p<0.03), and significantly reduced HDL cholesterol (p<0.01).