Cholesteryl ester storage disease: Hepatopathology and effects of therapy with lovastatin
Adrian M. Di Bisceglie, Kamal G. Ishak, Lionel Rabin, Jeffrey M. Hoeg – 1 May 1990 – We describe three patients with cholesteryl ester storage disease. Diagnosis was confirmed by demonstrating a deficiency in lysosomal acid cholesteryl hydrolase activity in cultured skin fibroblasts from each of these patients. All had hepatomegaly, elevated serum aminotransferase activities and hyperlipoproteinemia. Histological examination of liver biopsy specimens before treatment revealed accumulation of fat within hepatocytes, bile duct epithelium and endothelial and Kupffer cells.