Living with Cholesteryl ester storage disease
An inherited condition where fats build up in the liver and other organs because the body lacks an enzyme.
Understanding Cholesteryl ester storage disease
Fats (lipids) build up in tissues and organs, and calcium deposits form in the adrenal glands. The liver is most severely affected in most cases, and some people develop cirrhosis that can progress to liver failure. Fatty buildup on artery walls (atherosclerosis) can narrow arteries and raise the risk of heart attack or stroke. GARD lists onset from childhood to adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged liver
- Enlarged spleen
- Liver failure
- Hardening of the arteries (arteriosclerosis)
- Diarrhea
- Nausea and vomiting
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in LIPA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
LAL-D Aware may keep lists of experts for this condition.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: LAL-D Aware
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with LAL-D Aware
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the LIPA gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cesd; cesd - cholesterol ester storage disease; cholesterol ester hydrolase deficiency, partial; cholesterol ester storage disease; lal deficiency, partial; lipa deficiency, partial
Patient organizations
- LAL-D AwareCholesteryl ester storage disease · United States
You are more than your diagnosis
Perspectives from people navigating life with Cholesteryl ester storage disease.
Explore research for Cholesteryl ester storage disease
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