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July 7, 1978

Familial HypobetalipoproteinemiaAbsence of Atherosclerosis in a Postmortem Study

Author Affiliations

From the Departments of Pathology, Providence and Cincinnati General Hospitals (Dr Kahn), and the General Clinical Research and Lipid Research Center, University of Cincinnati College of Medicine (Dr Glueck), Cincinnati.

JAMA. 1978;240(1):47-48. doi:10.1001/jama.1978.03290010051023

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