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:

Cholesteryl Ester Storage Disease

Networked: 149 relevant articles (6 outcomes, 6 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

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

Experts

1.	Lopez, Adam M: 4 articles (01/2022 - 01/2014)
2.	Turley, Stephen D: 4 articles (01/2022 - 01/2014)
3.	Lohse, P: 4 articles (10/2013 - 01/2000)
4.	Bertolini, Stefano: 3 articles (01/2018 - 06/2009)
5.	Pisciotta, Livia: 3 articles (01/2018 - 06/2009)
6.	Burns, Dennis K: 2 articles (01/2022 - 10/2014)
7.	Repa, Joyce J: 2 articles (01/2022 - 10/2014)
8.	Gelb, Michael H: 2 articles (12/2020 - 01/2018)
9.	Han, Seungil: 2 articles (01/2020 - 06/2015)
10.	Hoth, Lise R: 2 articles (01/2020 - 06/2015)

Drugs and Biologics

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

1.	Lovastatin (Mevacor)FDA LinkGeneric 01/01/1991 - "We conclude that lovastatin may be effective in treating children with cholesterol ester storage disease." 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."
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. " 01/01/2020 - "Crystal structure of human lysosomal acid lipase and its implications in cholesteryl ester storage disease." 01/01/2018 - "Patients who are homozygous or compound heterozygous for mutations in the lysosomal acid lipase gene (LIPA), and have some residual enzymatic activity, have cholesteryl ester storage disease. " 01/01/2018 - "Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene." 06/01/2015 - "Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype."
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.	LipidsIBA 01/01/2014 - "On the basis of recent evidence that autophagy plays a role in cellular lipid degradation, we also speculate about autophagy enhancer strategies for treatment of hepatic lipid storage diseases such as cholesterol ester storage disease. " 10/01/2018 - "Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal lipid storage disorder that results in an early-onset, severe, and lethal phenotype, known as Wolman disease, or a late-onset, attenuated phenotype, cholesteryl ester storage disease (CESD). " 07/01/2004 - "The goal of this paper is to present a clinical case of a 4 year old boy, with hepatomegaly, splenomegaly and intestinal lipid infiltration due to a inborn error of lipid metabolism known as cholesterol ester storage disease. " 01/01/2017 - "In this Review we appraise the existing literature on Wolman's disease and cholesteryl ester storage disease, and discuss available treatments, including enzyme replacement therapy, oral lipid-lowering therapy, stem-cell transplantation, and liver transplantation." 12/01/2016 - "In an ongoing study of 66 children and adults with late-onset LAL-D (cholesteryl ester storage disease), 20 weeks' double-blind treatment with sebelipase alfa significantly reduced multiple disease-related hepatic and lipid abnormalities compared with placebo. "
5.	Cholesterol Esters (Cholesteryl Esters)IBA 06/01/1987 - "We report two cases of cholesteryl ester storage disease; we emphasize the clinical heterogeneity and present the EM picture of the conjunctiva with cholesteryl esters stored in the lysosomes." 01/01/2019 - "Excessive cholesteryl ester accumulation is a hallmark of cholesteryl ester storage disease or Wolman disease, which is associated with premature death. " 08/14/2019 - "Reduced LAL activity promotes increased multi-organ lysosomal cholesterol ester storage, as observed in two recessive autosomal genetic diseases, Wolman disease and Cholesterol ester storage disease. " 03/01/2016 - "Cholesterol ester storage disease (CESD) is an autosomal recessive disorder caused by deficient lysosomal acid lipase (LAL) activity, resulting in cholesteryl ester (CE) accumulation. " 06/01/2013 - "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. "
6.	CholesterolIBA 01/01/2022 - "Molecular markers of brain cholesterol homeostasis are unchanged despite a smaller brain mass in a mouse model of cholesteryl ester storage disease." 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)]." 01/01/1977 - "These findings suggest that guinea pigs fed cholesterol/fat, in some respects, can be used as a model for Wolman's disease and cholesteryl ester storage disease. "
7.	HydrolasesIBA 02/01/1995 - "Cholesteryl ester storage disease (CESD) results from inherited deficiencies of the lysosomal hydrolase, acid lipase (LAL; E.C. " 11/01/1984 - "The objectives of our studies were not only to directly compare and contrast the clinical features of Wolman disease and cholesteryl ester storage disease but also to determine the reasons(s) for the varied phenotype expression of acid cholesteryl ester hydrolase deficiency. " 01/01/2014 - "Cholesteryl ester storage disease (CESD, OMIM #278000) and Wolman disease (OMIM #278000) are autosomal recessive lysosomal storage disorders caused by a deficient activity of lysosomal acid lipase (cholesteryl ester hydrolase, LAL). " 12/01/1987 - "Cholesteryl ester storage disease (CESD) is characterized by the deficient activity of lysosomal cholesteryl ester (CE) hydrolase, accumulation of LDL-derived CE in lysosomes, and hyperlipidemia. " 11/01/1984 - "Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency."
8.	AcidsIBA 11/01/1984 - "The objectives of our studies were not only to directly compare and contrast the clinical features of Wolman disease and cholesteryl ester storage disease but also to determine the reasons(s) for the varied phenotype expression of acid cholesteryl ester hydrolase deficiency. " 02/01/1988 - "[Acid lipases and acid cholesterol esterases: Wolman's disease and cholesteryl ester storage disease]." 11/01/1984 - "Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency." 02/01/1985 - "Cholesteryl ester storage disease, caused by the loss of lysosomal acid ester hydrolase (EC 3.1.1.13), has been previously associated with hyperlipidemia and premature atherosclerosis. " 02/01/1984 - "Cholesterol ester storage disease is a rare, inherited metabolic disorder of lipid associated with acid cholesteryl ester hydrolase deficiency. "
9.	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. "
10.	Hydroxymethylglutaryl CoA Reductases (HMG CoA Reductase)IBA 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. "

Therapies and Procedures

1.	Enzyme Replacement Therapy 10/27/2022 - "Enzyme replacement therapy has a promising role in cholesteryl ester storage disease. " 02/01/1989 - "Enzyme replacement therapy in fibroblasts from a patient with cholesteryl ester storage disease." 01/01/2019 - "In humans, loss-of-function mutations of LIPA cause rare lysosomal disorders, Wolman disease and cholesteryl ester storage disease, in which LAL enzyme-replacement therapy has shown significant benefits in a phase 3 clinical trial. " 01/01/2018 - "In humans, loss-of-function mutations of LIPA cause rare lysosomal disorders, Wolman disease, and cholesteryl ester storage disease, in which LAL enzyme replacement therapy has shown significant benefits in a phase 3 clinical trial. " 01/01/2017 - "In this Review we appraise the existing literature on Wolman's disease and cholesteryl ester storage disease, and discuss available treatments, including enzyme replacement therapy, oral lipid-lowering therapy, stem-cell transplantation, and liver transplantation."
2.	Therapeutics 05/18/2018 - "Cholesteryl Ester Storage Disease: Fatal Outcome without Causal Therapy in a Female Patient with the Preventable Sequelae of Progressive Liver Disease after Many Years of Mild Symptoms." 07/01/1992 - "Cholesteryl ester storage disease: complex molecular effects of chronic lovastatin therapy." 01/01/1991 - "Lovastatin therapy for cholesterol ester storage disease in two sisters." 05/01/1990 - "Cholesteryl ester storage disease: hepatopathology and effects of therapy with lovastatin." 09/01/2013 - "Cholesteryl ester storage disease (CESD), an inherited deficiency of lysosomal acid lipase (LAL), is an underappreciated cause of progressive liver disease with no approved therapy. "
3.	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. "
4.	Stem Cell Transplantation 01/01/2017 - "In this Review we appraise the existing literature on Wolman's disease and cholesteryl ester storage disease, and discuss available treatments, including enzyme replacement therapy, oral lipid-lowering therapy, stem-cell transplantation, and liver transplantation."