Murase_2014_Ann.Clin.Biochem_51_294

BACKGROUND: Familial lipoprotein lipase (LPL) deficiency is a very rare autosomal recessive disorder characterized by marked elevation of plasma triglyceride concentrations. Since 1989, a variety of mutations have been reported in affected patients. Studies on subjects with heterozygous LPL deficiency, on the other hand, have been limited.
METHODS: We examined post-heparin plasma LPL activity in 15 subjects with heterozygous LPL deficiency.
RESULTS: The heterozygotes exhibited normal or slightly elevated plasma triglyceride concentrations. The mean LPL activity was reduced by 25% in the heterozygotes relative to controls. Interestingly, LPL activity was reduced specifically in female heterozygotes. CONCLUSION: LPL activity is decreased in female, but not in male, subjects heterozygous for a number of different LPL gene mutations.