Overview
Cholesteryl ester storage disease (CESD) is a rare inherited condition where the body cannot properly break down fats called cholesteryl esters and triglycerides inside cells. This happens because of a shortage of an enzyme called lysosomal acid lipase (LAL), which is responsible for breaking down these fats in tiny compartments inside cells called lysosomes. When this enzyme does not work properly, fatty substances build up — especially in the liver, spleen, and blood vessel walls. CESD is sometimes called LAL deficiency (LAL-D) or lysosomal acid lipase deficiency. It is considered the milder end of a disease spectrum; the severe infant form of the same enzyme deficiency is called Wolman disease. The fat buildup in CESD causes the liver to become enlarged and scarred over time, which can eventually lead to liver failure if untreated. Cholesterol levels in the blood are often abnormal, with high LDL ('bad') cholesterol and low HDL ('good') cholesterol. This raises the risk of early heart disease and hardening of the arteries. The spleen may also become enlarged, sometimes causing a low blood cell count. Symptoms can begin in childhood or adulthood and may be mild for many years, making diagnosis difficult. Treatment has improved significantly with the approval of sebelipase alfa (Kanuma), an enzyme replacement therapy that directly replaces the missing LAL enzyme. With early diagnosis and treatment, many patients can manage their symptoms and reduce the risk of serious complications.
Also known as:
Key symptoms:
Enlarged liver (hepatomegaly)Enlarged spleen (splenomegaly)High LDL ('bad') cholesterolLow HDL ('good') cholesterolHigh triglycerides (fats in the blood)Liver scarring (fibrosis or cirrhosis)Abdominal pain or discomfortFatigue and low energyYellowing of the skin or eyes (jaundice) in advanced liver diseaseEarly or accelerated hardening of the arteries (atherosclerosis)Low red or white blood cell counts due to spleen involvementNausea or poor appetite
Clinical phenotype terms (13)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
1 eventOndokuz Mayıs University — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Cholesteryl ester storage disease.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Cholesteryl ester storage disease.
Community
No community posts yet. Be the first to share your experience with Cholesteryl ester storage disease.
Start the conversation →Latest news about Cholesteryl ester storage disease
Disease timeline:
New recruiting trial: Lysosomal Acid Lipase Deficiency in Risk Groups
A new clinical trial is recruiting patients for Cholesteryl ester storage disease
New recruiting trial: Lysosomal Acid Lipase (LAL) Deficiency Registry
A new clinical trial is recruiting patients for Cholesteryl ester storage disease
New recruiting trial: The Effect of Kegel Exercise and Ba Duan Jin Applications on Premenopausal Women With Urinary Incontinence
A new clinical trial is recruiting patients for Cholesteryl ester storage disease
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my liver disease right now, and what monitoring do I need going forward?,Am I a candidate for sebelipase alfa (Kanuma) enzyme replacement therapy, and how would I access it?,What cholesterol or lipid treatments do you recommend alongside enzyme therapy?,What dietary changes should I make to help protect my liver and heart?,How often do I need blood tests and imaging to track my disease?,Should my family members be tested for this condition?,Are there any clinical trials I should know about for CESD or LAL deficiency?
Common questions about Cholesteryl ester storage disease
What is Cholesteryl ester storage disease?
Cholesteryl ester storage disease (CESD) is a rare inherited condition where the body cannot properly break down fats called cholesteryl esters and triglycerides inside cells. This happens because of a shortage of an enzyme called lysosomal acid lipase (LAL), which is responsible for breaking down these fats in tiny compartments inside cells called lysosomes. When this enzyme does not work properly, fatty substances build up — especially in the liver, spleen, and blood vessel walls. CESD is sometimes called LAL deficiency (LAL-D) or lysosomal acid lipase deficiency. It is considered the milder
How is Cholesteryl ester storage disease inherited?
Cholesteryl ester storage disease follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Cholesteryl ester storage disease?
Yes — 1 recruiting clinical trial is currently listed for Cholesteryl ester storage disease on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Cholesteryl ester storage disease?
12 specialists and care centers treating Cholesteryl ester storage disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.