Definition
Cholesteryl ester storage disease is a mild form of acid lipase deficiency and is a lysosomal storage disease characterized by hepatomegaly and hypercholesterolemia.
Symptoms
- Hepatomegaly
- Hypercholesterolemia
- Early atherosclerosis
- Liver fibrosis
Reasons
LIPA gene mutation.
Diagnosis
Enzyme activity, genetic testing.
Treatment
Statins, diet.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of liver failure, emergency services should be consulted.
This page is for general information purposes only.