Cholesteryl ester storage disease
ORPHA:75234· ICD-10 E75.5
Definition
A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood