Cholesteryl ester storage disease with secondary lecithin cholesterol acyl transferase deficiency

Abstract

Cholesterol ester storage disease (CESD; McKusick 21500) is a rare lipid storage disorder inherited in an autosomal recessive manner. The disease results from a marked deficiency of lysosomal acid esterase activity which gives characteristic blood lipid abnormalities (plasma lipoprotein pattern type IIa or IIb). Wolman's disease is the more severe form of acid lipase deficiency, nearly always fatal before the age of 1 year. Clinical features of CESD include hepatomegaly, splenomegaly, oesophageal varices and finally hepatic fibrosis. In many cases hepatomegaly is the only clinical abnormality and the disease may therefore not be diagnosed until adulthood (Assmann et at., 1983). We present a case of CESD with secondary deficiency of lecithin cholesterol acyl transferase (LCAT) due to hepatocellular disease (Sabesin et at., 1977). This latter enzyme is responsible for cholesterol esterification.

DOI: 10.1007/BF01804220

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Cite this paper

@article{Erum1988CholesterylES, title={Cholesteryl ester storage disease with secondary lecithin cholesterol acyl transferase deficiency}, author={Sajida Erum and Daniele Gnat and Charles O. Finne and Daniel R. Blum and C. Vanhelleput and Esther Vamos and Françoise Vertongen}, journal={Journal of Inherited Metabolic Disease}, year={1988}, volume={11}, pages={146-148} }