Familial Hypobetalipoproteinemia

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Abstract
FAMILIAL hypobetalipoproteinemia is characterized by sharply reduced levels of plasma cholesterol and lowdensity lipoprotein cholesterol (C-LDL).1,2High-density lipoprotein cholesterol (C-HDL) level is normal to slightly elevated.2Men and women from hypobetalipoproteinemic kindreds had reported life expectancies that were seven and six years longer, respectively, than for US white populations (P<.002).2Combined myocardial infarction morbidity and mortality was 2.5% in hypobetalipoproteinemic kindreds, fivefold less than in normolipemic controls (11%;P<.01).2In hypobetalipoproteinemia, low C-LDL, the atherogenic lipoprotein,2-4or a low ratio of C-LDL to C-HDL, the antiatherogenic lipoprotein,2,4may facilitate longevity and decrease morbidity and mortality from myocardial infarction.2 We report what to our knowledge is the first documented autopsy study of a patient with familial hypobetalipoproteinemia and in whom there were no arterial atherosclerotic lesions on either gross or microscopic examination. Report of a Case A 76-year-old woman was found to