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Cholesteryl Ester Storage Disease: Risk Factors for Atherosclerosis in a 15-Year-Old Boy

  • R. Longhi
  • C. Vergani
  • R. Valsasina
  • E. Riva
  • C. Galluzzo
  • C. Agostoni
  • M. Giovannini

Abstract

Cholesteryl ester storage disease (CESD; McKusick 21500), an autosomal recessive inborn error of metabolism, is characterized by deficient activity of lysosomal acid lipase. This disorder, unlike the more dangerous expression of the deficiency state, Wolman’s disease, can allow patients to live a long time and may not be detected until adulthood, in spite of important biochemical abnormalities. One of these concerns the lipidaemic pattern and the related risk of developing early atherosclerosis due to a high serum total cholesterol and triglyceride levels coupled with very low high-density lipoprotein (HDL) values. As a consequence, a wide range of clinical pictures of the disease is possible, ranging from mild clinical expressions to life threatening ones. We describe here the case of a young subject affected by CESD, emphasizing the risk factors for the development of early atherosclerosis.

Keywords

Early Atherosclerosis LCAT Activity Dehydroepiandrosterone Sulphate Endogenous Cholesterol Synthesis Lysosomal Acid Lipase 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

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Copyright information

© Springer Science+Business Media Dordrecht 1988

Authors and Affiliations

  • R. Longhi
    • 1
  • C. Vergani
    • 2
  • R. Valsasina
    • 1
  • E. Riva
    • 1
  • C. Galluzzo
    • 1
  • C. Agostoni
    • 1
  • M. Giovannini
    • 1
  1. 1.5th Department of Pediatrics, Institute of Biomedical Sciences ‘Ospedale S. Paolo’University of MilanItaly
  2. 2.3rd Department of Internal Medicine, Centre for the Study and the Therapy of Metabolic DiseasesUniversity of MilanItaly

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