cholesterol ester storage disease

info · Genetic

A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen.

Signs and symptoms

Hepatic steatosis
Decreased circulating HDL-C concentration
Hepatic failure
Hypersplenism
Hepatomegaly
Esophageal varix
Reduced lysosomal acid lipase activity
Elevated circulating alanine aminotransferase concentration
Portal hypertension
Failure to thrive

Also known as: CESD; partial LAL deficiency; partial LIPA deficiency; partial cholesterol ester hydrolase deficiency; partial lysosomal acid lipase deficiency