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Familial Hypobetalipoproteinemia Absence of Atherosclerosis in a Postmortem Study

Jeffrey A. Kahn, MD; Charles J. Glueck, MD
JAMA. 1978;240(1):47-48. doi:10.1001/jama.1978.03290010051023.
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FAMILIAL hypobetalipoproteinemia is characterized by sharply reduced levels of plasma cholesterol and lowdensity lipoprotein cholesterol (C-LDL).1,2 High-density lipoprotein cholesterol (C-HDL) level is normal to slightly elevated.2 Men and women from hypobetalipoproteinemic kindreds had reported life expectancies that were seven and six years longer, respectively, than for US white populations (P<.002).2 Combined myocardial infarction morbidity and mortality was 2.5% in hypobetalipoproteinemic kindreds, fivefold less than in normolipemic controls (11%; P<.01).2 In hypobetalipoproteinemia, low C-LDL, the atherogenic lipoprotein,2-4 or a low ratio of C-LDL to C-HDL, the antiatherogenic lipoprotein,2,4 may 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


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