Which histologic findings are characteristic of low HDL cholesterol (hypoalphalipoproteinemia)?

Updated: May 21, 2021
  • Author: Vibhuti N Singh, MD, MPH, FACC, FSCAI; Chief Editor: George T Griffing, MD  more...
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Answer

In 1988, Godin and colleagues described a case of erythrocyte membrane abnormalities in a 16-year-old boy with HA resembling fish-eye disease. [28] The proband's erythrocytes had markedly decreased osmotic fragility, with target cells observed in the peripheral film. Analysis of the patient's erythrocyte membrane lipids revealed normal cholesterol and phospholipid content but a marked increase in phosphatidylcholine with concomitant decreases in phosphatidylethanolamine and sphingomyelin.

Of the erythrocyte membrane enzymes examined, acetylcholinesterase and superoxide dismutase activities were decreased, while those of Na+/K+ -ATPase, catalase, and glutathione reductase were normal. In this patient, chromium Cr 51–labeled erythrocyte survival was slightly decreased. The observed changes in a number of structural and functional properties of erythrocytes in this disorder are indistinguishable from those described in homozygotes for familial LCAT deficiency.

In 1989, Satta and colleagues noted that the data in the literature suggest that cases of HA involve an increase in thromboxane B2 together with an increased risk of atherosclerosis. A detailed examination of a 32-year-old man revealed clinical and biochemical features strongly indicative of that pathology. The case presented several unusual features, including (1) marked infiltration of the skin and mesenteric lymph nodes by histiocytic lipids, with hyperplasia sufficient to induce acute intestinal occlusion and (2) an in vivo thromboxane B2 generation curve, subsequently inhibited by aspirin, that was comparable to the curves of the control subjects. [23]


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