Cholesteryl ester storage disease

Common Name(s)

Cholesteryl ester storage disease

Cholesteryl ester storage disease (CESD) is a group of genetic conditions in which the body has difficulty breaking down and using fats and cholesterol (known as lipid metabolism). CESD groups together the milder forms conditions caused by lysosomal acid lipase deficiency. Wolman syndrome is the more severe form. In these disorders, the body does make enough of the acid lipase enzyme (a protein) and therefore fats and cholesterol are not processed correctly. This results is the accumulation of fats and cholesterol in various parts of the body. The liver is most severely affected and enlargement of the liver is one of the first signs of this disorder. Fatty deposits on the walls of the arteries (atherosclerosis or hardening of the arteries) may be seen early in life, increasing a person's risk for heart attack and stroke. Other symptoms include high lipid (fats) levels in the blood, enlarged spleen and liver cirrhosis. The symptoms of CESD are highly variable and are usually benign, meaning the symptoms do not cause problems or become worse over time. Some individuals are not diagnosed until adulthood, though most often symptoms begin around ages 10-12. Wolman syndrome, by contrast, begins in infancy (see also Wolman disease.).

Diagnosis is made by testing the levels of acid lipase. Genetic testing may also be used. Although there is currently no cure for CESD, treatments include a low cholesterol diet and medications to reduce cholesterol levels in the blood. If you or a family member has been diagnosed with CESD, talk with your doctor or specialist about the most current treatment options.

CESD (and Wolman syndrome) are caused by mutations or changes in the acid lipase gene (LAL or LAL) and is inherited in an autosomal recessive manner. Speak with a genetic counselor or specialist for more information.

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Condition Specific Organizations

Following organizations serve the condition "Cholesteryl ester storage disease" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cholesteryl ester storage disease" returned 18 free, full-text research articles on human participants. First 3 results:

Morphology of Wolman cholesteryl ester storage disease.
 

Author(s): Robin M Ireland

Journal: Blood. 2017 02;129(6):803.

 

Last Updated: 31 Dec 1969

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Hypercholesterolaemia and hepatosplenomegaly: two manifestations of cholesteryl ester storage disease.
 

Author(s): B Sjouke, J W J van der Stappen, J E M Groener, A Pepping, R A Wevers, A Gouw, L D Dikkeschei, S Mijnhout, G K Hovingh, M A Alleman

Journal: Neth J Med. 2015 Mar;73(3):129-32.

 

Cholesteryl ester storage disease (CESD) is a rare autosomal recessive disease caused by mutations in LIPA. Here we describe two different clinical presentations of this disease: one case with a clear phenotype of familial hypercholesterolaemia and one case with hepatosplenomegaly ...

Last Updated: 31 Dec 1969

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Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.
 

Author(s): Stuart A Scott, Benny Liu, Irina Nazarenko, Suparna Martis, Julia Kozlitina, Yao Yang, Charina Ramirez, Yumi Kasai, Tommy Hyatt, Inga Peter, Robert J Desnick

Journal: Hepatology. 2013 Sep;58(3):958-65.

 

Cholesteryl ester storage disease (CESD) and Wolman disease are autosomal recessive later-onset and severe infantile disorders, respectively, which result from the deficient activity of lysosomal acid lipase (LAL). LAL is encoded by LIPA (10q23.31) and the most common mutation associated ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cholesteryl ester storage disease" returned 1 free, full-text review articles on human participants. First 3 results:

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

Author(s): Donna L Bernstein, Helena H├╝lkova, Martin G Bialer, Robert J Desnick

Journal: J. Hepatol.. 2013 Jun;58(6):1230-43.

 

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 ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Biomarker for Wolman Disease
 

Status: Recruiting

Condition Summary: Wolman Disease; Acid Lipase Deficiency; Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type; Cholesterol Ester Storage Disease

 

Last Updated: 3 Jul 2017

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Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients
 

Status: Recruiting

Condition Summary: Liver Post-transplant Patients

 

Last Updated: 29 Jul 2016

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Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant.
 

Status: Recruiting

Condition Summary: Patients Waiting for a Liver Transplant.

 

Last Updated: 28 Jul 2016

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