Background: Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive disease, with massive accumulation of cholesteryl esters and triglycerides in many organs, leading to hepatosplenomegaly, microvesicular steatosis, cirrhosis and premature death. Early recognition is crucial for timely enzyme replacement therapy.
Objectives: To screen for LAL-D in subjects with dyslipidemias and/or liver disease at an outpatient lipid clinic.