HIGHER TRIGLYCERIDES, LOWER HIGH-DENSITY-LIPOPROTEIN CHOLESTEROL, ANDHIGHER SYSTOLIC BLOOD-PRESSURE IN LIPOPROTEIN LIPASE-DEFICIENT HETEROZYGOTES - A PRELIMINARY-REPORT

Background Heterozygous lipoprotein lipase (LPL) deficiency has been a ssociated with familial hypertriglyceridemia and familial combined hyp erlipidemia. Studies of heterozygotes with LPL gene defects at amino a cid residues 188 and 207 showed higher triglycerides (TG) and lower HD L cholesterol (HDL-C), with no elevation in LDL cholesterol (LDL-C). O ther LPL defects may reveal alternate clinical phenotypes. Methods and Results We evaluated three families with defects at amino acid residu es 64, 194, and 188. Thirty-eight heterozygotes (8 with defect 64, 14 with defect 194, and 16 with defect 188) and 95 family members without defects were studied. Plasma lipid, lipoprotein, and apolipoprotein ( ape) values were measured, as well as blood pressure. Pooled carriers demonstrated higher systolic blood pressure (SBP) (127 versus 116 mm H g, P<.0001) and TG (160 versus 125 mg/dL, P=.004) and lower HDL-C (44 versus 52 mg/dL, P=.001) than did noncarriers. A comparison of the 188 carriers and noncarriers revealed the most striking phenotypic charac teristics, with lower HDL-C (36 versus 51 mg/dL, P<.0001) and HDL-C/(a po A-I + apo A-II) (0.21 versus 0.24, P=.002) and higher TG (206 versu s 123 mg/dL, P=.0003), SBP (132 versus 116 mm Hg, P=.0004), and apo B/ LDL-C (1.12 versus 0.93, P<.0001). Conclusions These data confirm past observations that LPL deficient heterozygotes trend toward lower HDL- C and higher TG levels while potentially expressing higher SBP. These data also implicate the specific LPL gene defect as a contributing fac tor to the variable expression of HDL-C, TG, and SBP.