Cholesterol Ester Storage Disease

An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.

Also Known As:

Networked: 117 relevant articles (3 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Wolman Disease (Wolman's Disease)
2.	Atherosclerosis
3.	Dyslipidemias (Dyslipidemia)
4.	Liver Diseases (Liver Disease)
5.	Hepatomegaly

Experts

1.	Lohse, P: 4 articles (10/2013 - 01/2000)
2.	Guardamagna, Ornella: 2 articles (10/2015 - 03/2012)
3.	Lopez, Adam M: 2 articles (10/2014 - 01/2014)
4.	Posey, Kenneth S: 2 articles (10/2014 - 01/2014)
5.	Turley, Stephen D: 2 articles (10/2014 - 01/2014)
6.	Defesche, Joep C: 2 articles (12/2013 - 08/2013)
7.	Fouchier, Sigrid W: 2 articles (12/2013 - 08/2013)
8.	Freudenberg, F: 2 articles (10/2013 - 02/2009)
9.	Desnick, Robert J: 2 articles (09/2013 - 06/2013)
10.	Calandra, Sebastiano: 2 articles (03/2012 - 06/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cholesterol Ester Storage Disease:

1.	Lovastatin (Mevacor)FDA LinkGeneric 11/01/1992 - "Lovastatin appears to be a safe and effective treatment for pediatric cholesteryl ester storage disease." 11/01/1992 - "The aim of this study was to prospectively assess the safety and efficacy of lovastatin in the treatment of cholesteryl ester storage disease in siblings who were ages 11.6 and 5 y at the beginning of treatment. " 11/01/1992 - "Safety and efficacy of treatment of pediatric cholesteryl ester storage disease with lovastatin." 07/01/1992 - "Cholesteryl ester storage disease: complex molecular effects of chronic lovastatin therapy." 05/01/1990 - "Cholesteryl ester storage disease: hepatopathology and effects of therapy with lovastatin."
2.	Sterol Esterase (Hormone-Sensitive Lipase)IBA 05/01/1995 - "Previous studies have indicated that compound heterozygosity consisting of a G-->A mutation at the 3'-splice junction of exon 8 (E8SJM-allele) together with a null allele of the gene encoding lysosomal acid lipase leads to cholesterol ester storage disease. " 06/01/2015 - "Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype." 10/15/2014 - "Cholesteryl ester storage disease (CESD) results from loss-of-function mutations in LIPA, the gene that encodes lysosomal acid lipase (LAL). " 10/01/2013 - "Cholesteryl ester storage disease (CESD) is a rare, autosomal recessively inherited disorder resulting from deficient activity of lysosomal acid lipase (LAL). " 09/01/2013 - "Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease."
3.	AntigensIBA 04/01/1997 - "The reduction of LAL activity in nine heterozygote, disease free carriers of mutations from two cholesteryl ester storage disease (CESD) pedigrees and the family of a patient with Wolman disease was associated with an increased fraction of monocytes which expressed CD56 (N-CAM) (4.1 +/- 2.7% of monocytes, compared to 2.2 +/- 0.5% in ten controls, P < 0.05), an antigen characteristic of immature myeloid cells, suggesting an increased turnover of monocytes. "
4.	CholesterolIBA 12/01/2013 - "We observed abnormal hepatic accumulation of cholesterol in the homozygote individuals, supporting the diagnosis of cholesterol ester storage disease. " 12/01/2013 - "Because homozygosity for mutations in LIPA is known to cause cholesterol ester storage disease, we performed directed follow-up phenotyping by noninvasively measuring hepatic cholesterol content. " 07/01/1987 - "[Childbirth in a rare disorder of cholesterol metabolism (cholesterol ester storage disease)]." 12/01/1984 - "Cholesterol ester and triglyceride metabolism was examined in intact fibroblast monolayers from normal individuals and patients with Wolman's disease and cholesterol ester storage disease. " 12/01/1984 - "Cholesterol ester and triglyceride metabolism in intact fibroblasts from patients with Wolman's disease and cholesterol ester storage disease."
5.	LipidsIBA 03/01/2000 - "Accumulated lipids, aberrant fatty acid composition and defective cholesterol ester hydrolase activity in cholesterol ester storage disease." 02/01/1985 - "We identified a 23-month-old female with cholesteryl ester storage disease and characterized the plasma lipids and lipoproteins in the proband and her family. " 02/01/1985 - "Characterization of plasma lipids and lipoproteins in cholesteryl ester storage disease." 01/01/1985 - "Plasma lipids and lipoproteins of a patient with cholesteryl ester storage disease." 05/01/1996 - "Deficiency of LAL in humans leads to Wolman disease and cholesteryl ester storage disease that result, respectively, in the intralysosomal storage of both neutral lipids or only cholesteryl esters. "
6.	Apolipoproteins B (ApoB)IBA 03/01/1999 - "FH, familial defective apoprotein (apo) B, sitosterolemia, and cholesteryl ester storage disease were excluded by in vitro studies. " 01/01/1995 - "Using a stable isotope method, we measured the hepatic secretion rate of very-low-density lipoprotein apolipoprotein B-100 (VLDL apoB) in a 26-year-old women who had dyslipidemia due to cholesteryl ester storage disease (CESD) and in five normolipidemic subjects. " 06/01/2002 - "The following subjects are reviewed: (1) methodology; (2) normal individuals and the effects of aging; (3) diet; (4) hereditary dyslipidemias: familial hypercholesterolemia, familial combined hyperlipidemia, cholesteryl ester storage disease, cholesteryl ester transfer protein deficiency, lipoprotein lipase deficiency, familial hypobetalipoproteinemia, and truncated forms of apoB; (5) hormonal perturbations: estrogen, insulin, diabetes, obesity, and growth hormone; (6) the nephrotic syndrome; and (7) the effects of the statin class of drugs. "
7.	Hydroxymethylglutaryl CoA Reductases (HMG CoA Reductase)IBA 05/01/2001 - "Long-term administration of the HMG-CoA reductase inhibitor lovastatin in two patients with cholesteryl ester storage disease." 07/01/1992 - "To better characterize the in vivo effects of 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase inhibition on human lipid metabolism, an adolescent male with cholesteryl ester storage disease (CESD) was treated chronically with lovastatin. " 05/01/2001 - "In order to suppress de novo cholesterol and VLDL biosynthesis, a long-term therapy trial with lovastatin, a competitive inhibitor of 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) reductase, was initiated in two patients with cholesteryl ester storage disease (CESD), and concentrations of plasma lipids were monitored over a period of 9 years. "
8.	ApoproteinsIBA 03/01/1999 - "FH, familial defective apoprotein (apo) B, sitosterolemia, and cholesteryl ester storage disease were excluded by in vitro studies. "
9.	SitosterolemiaIBA 03/01/1999 - "FH, familial defective apoprotein (apo) B, sitosterolemia, and cholesteryl ester storage disease were excluded by in vitro studies. "
10.	3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA)IBA 05/01/2001 - "In order to suppress de novo cholesterol and VLDL biosynthesis, a long-term therapy trial with lovastatin, a competitive inhibitor of 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) reductase, was initiated in two patients with cholesteryl ester storage disease (CESD), and concentrations of plasma lipids were monitored over a period of 9 years. "

Therapies and Procedures

1.	Liver Transplantation 01/01/2013 - "Orthotopic liver transplantation in an adult with cholesterol ester storage disease." 09/01/1995 - "Treatment and liver transplantation for cholesterol ester storage disease." 08/01/1991 - "Orthotopic liver transplantation for cholesteryl ester storage disease." 04/01/1991 - "Liver transplantation for cholesteryl ester storage disease." 04/01/1991 - "This case describes a patient with cholesteryl ester storage disease who underwent liver transplantation for progressive cirrhosis, portal hypertension, ascites, and uncontrollable gastrointestinal bleeding. "
2.	Enzyme Replacement Therapy 02/01/1989 - "Enzyme replacement therapy in fibroblasts from a patient with cholesteryl ester storage disease."
3.	Transplants (Transplant) 01/01/1993 - "Between the 7th of June 1985 and december 1991, 71 liver transplants (LTx) were performed in 60 patients (pts) with ages ranging from 8 months to 14 years and weight between 4 and 38 kg. Sixty-two percent were cholestatic diseases (32 biliary atresia, 3 sclerosing cholangitis and 2 biliary paucity), 25% metabolic hepatic-based diseases (6 glycogen storage disease, 4 Byler disease, 3 tyrosinaemia and 2 alpha-1-antitrypsin deficiency) and 13% miscellaneous diagnosis (2 post-hepatitic cirrhosis, 2 autoimmune hepatitis, 2 fulminant hepatitis and one case of cholesteryl ester storage disease and one case of Budd-Chiari disease). "