National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Cholesteryl ester storage disease


Other Names:
CESD; Cholesterol ester hydrolase deficiency; Cholesterol ester storage disease
Categories:
This disease is grouped under:
Cholesteryl ester storage disease is is a type of lysosomal acid lipase deficiency.[1] It is an inherited disease that causes a buildup of fats (lipids) in the tissues and organs of the body and calcium deposits in the adrenal glands. The liver is most severely affected in most cases. Some people with cholesteryl ester storage disease may develop liver cirrhosis that progresses to liver failure. People with cholesteryl ester storage disease may also build up fatty deposits on the artery walls (atherosclerosis). This buildup can narrow the arteries and increase the risk for heart attack or stroke. Cholesteryl ester storage disease is caused by mutations in the LIPA gene. It is inherited in an autosomal recessive manner.[2] Enzyme replacement therapy is available for the treatment of lysosomal acid lipase deficiencies, including cholesteryl ester storage disease, in the United States, the European Union, and Japan.[1][3] A low cholesterol diet may also be helpful.[4]
Last updated: 4/14/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Hepatomegaly
Enlarged liver
0002240
30%-79% of people have these symptoms
Arteriosclerosis 0002634
Diarrhea
Watery stool
0002014
Hepatic failure
Liver failure
0001399
Hypercholesterolemia
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol
[ more ] 		0003124
Hypertriglyceridemia
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] 		0002155
Nausea and vomiting 0002017
Splenomegaly
Increased spleen size
0001744
5%-29% of people have these symptoms
Adrenal calcification 0010512
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Esophageal varix
Enlarged vein in esophagus
0002040
Jaundice
Yellow skin
Yellowing of the skin
[ more ] 		0000952
Pruritus
Itching
Itchy skin
Skin itching
[ more ] 		0000989
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Death in infancy
Infantile death
Lethal in infancy
[ more ] 		0001522
Hepatic steatosis
Fatty infiltration of liver
Fatty liver
[ more ] 		0001397
Protuberant abdomen
Belly sticks out
Extended belly
[ more ] 		0001538
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Cholesteryl ester storage disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cholesteryl ester storage disease. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Hoffman EP, Barr ML, Giovanni MA & Murray MF. Lysosomal Acid Lipase Deficiency. GeneReviews. September 1 2016; http://www.ncbi.nlm.nih.gov/books/NBK305870/.
  2. Cholesteryl ester storage disease. Genetics Home Reference (GHR). October 2007; http://ghr.nlm.nih.gov/condition/cholesteryl-ester-storage-disease. Accessed 7/14/2015.
  3. Kruer MC, Steiner RD. Lysosomal Storage Disease: Wolman Disease and Cholesteryl Ester Storage Disease. Medscape Reference. December 9 2015; http://emedicine.medscape.com/article/1182830-overview#a7.
  4. Acid Lipase Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). https://www.ninds.nih.gov/Disorders/All-Disorders/Acid-Lipase-Disease-Information-Page. Accessed 12/6/2017.