Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease

• Published in: Journal of hepatology Vol. 58; no. 6; pp. 1230 - 1243
• Main Authors: Bernstein, Donna L, Hülkova, Helena, Bialer, Martin G, Desnick, Robert J
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.06.2013
• Subjects: Cholesterol - blood; Cholesterol Ester Storage Disease - complications; Cholesterol Ester Storage Disease - diagnosis; Cholesterol Ester Storage Disease - genetics; Cholesterol Ester Storage Disease - pathology; Cholesterol Ester Storage Disease - therapy; Cholesteryl ester storage disease; Elevated serum transaminases; Enzyme Replacement Therapy; Gastroenterology and Hepatology; Hepatomegaly; Humans; Liver - pathology; Liver Transplantation; Lysosomal acid lipase deficiency; Lysosomal storage disease; Micronodular cirrhosis; Microvesicular steatosis; Non-alcoholic fatty liver disease (NAFLD); Non-alcoholic steatohepatitis; Triglycerides - blood; Type 2b dyslipidemia; Wolman Disease; Wolman Disease - complications; Wolman disease; exon 8 splice-junction mutation; NAFLD; non-alcoholic fatty liver disease; enzyme replacement therapy; LIMP; E8SJM; ERT; Non-alcoholic fatty liver disease (NAFLD); alanine aminotransferase; ALT; CHO; Elevated serum transaminases; WD; LIPA; Hepatomegaly; Non-alcoholic steatohepatitis; ApoB; ABCA1; lysosomal acid lipase; AST; CE; lysosomal integral membrane; Lysosomal acid lipase deficiency; HMG-CoA; Lysosomal storage disease; CESD; NASH; Cholesteryl ester storage disease; 3-hydroxy-3-methylglutaryl coenzyme A; ATP binding cassette transporter 1; recombinant human LAL; aspartate aminotransferase; Microvesicular steatosis; Micronodular cirrhosis; lysosomal associated membrane protein; lysosomal acid lipase gene; Chinese hamster ovary; LAL; rhLAL; LAMP; apolipoprotein B; cholesteryl ester; Type 2b dyslipidemia

Summary Cholesteryl ester storage disease (CESD) is caused by deficient lysosomal acid lipase (LAL) activity, predominantly resulting in cholesteryl ester (CE) accumulation, particularly in the liver, spleen, and macrophages throughout the body. The disease is characterized by microvesicular steatos...