This case report identifies a unique presentation of familial hypobetalipoproteinemia characterized by an additional defect affecting the clearance of chylomicrons and VLDL.
A C T A new kindred with asymptomatic hypobetalipoproteinemia is reported. The proband, age 67, differs from previously described cases in several respects: (a) unusually low levels of low density lipo- protein (LDL) cholesterol (4-8 mg/dl); (b) normal tri- glyceride levels; (c) low levels of high density lipopro- tein; (d) mild fat malabsorption; and (e) a defect in chylomicron clearance. On a high-carbohydrate diet his plasma triglyceride levels, instead of rising, actually fell. Turnover of triglycerides in very low density lipo- proteins (VLDL) was low (2.8 mg/kg per h). Fractional catabolic rate ofLDL protein was just above the normal range (0.655/d) but net turnover was < 10% ofnornal (0.65 mg/kg per d). The half-life of his chylomicrons was 29 min, five times the normal value. Postheparin lipoprotein lipase activity was normal and apolipoprotein C-II, the activator protein for lipoprotein lipase, was present and functional. Apolipoprotein C-l1, however, was not detected in the VLDL fraction, a finding previously reported in patients with abetalipoproteinemia. Fecal excretion of cholesterol was almost twice normal; total sterol balance was increased by -40%. The unusual features in the proband that distinguish him from pre- viously described cases and from his affected first-degree relatives suggested that, in addition to the basic gene defect affecting LDL metabolism, he might have a second abnormality affecting clearance of chylomicrons and VLDL. The ratio of apolipoprotein E3 to E2 in his VLDL fraction was 0.93, just below the lower limit of A preliminary report of this study was presented to the
Steinberg et al. (Sun,) studied this question.