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AbetalipoproteinemiaNew Insights Into Lipoprotein Assembly and Vitamin E Metabolism From a Rare Genetic Disease
Daniel J. Rader, MD;
H. Bryan Brewer, Jr, MD
JAMA. 1993;270(7):865-869.
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SELECTED CASE
A 30-year-old woman was referred to the National Institutes of Health (NIH) with malabsorption, ataxia, visual impairment, and low serum cholesterol level. As an infant, she had frequent colic and diarrhea, which improved when the amount of fat in her diet was decreased. She continued to have malabsorptive symptoms after ingesting a fatty meal and was diagnosed at 8 years of age as having celiac disease. A gluten-free diet did not, however, improve her symptoms. During her late teens and twenties, she experienced slowly progressive difficulty maintaining her balance, numbness in her legs below the knee, and difficulty in seeing at night with worsening color vision. At age 28 years she had a small-intestine biopsy; the findings were not consistent with celiac disease but rather revealed lipid-engorged enterocytes. Her family history was remarkable in that her parents were fourth cousins and her three younger sisters had similar, though
. . . [Full Text PDF of this Article]
Author Affiliations
From the Molecular Disease Branch, National Heart, Lung, and Blood Institute, Bethesda, Md.
Footnotes
Reprint requests to the Molecular Disease Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bldg 10, Room 7N117, 9000 Rockville Pike, Bethesda, MD 20892 (Dr Rader).
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