A combination of cardiovascular and hepatocellular disease in a patient with a late diagnosis of lysosomal acid lipase deficiency.

Abstract

Background and Aims: Lysosomal acid lipase deficiency (LAL-D) is a lysosomal storage disease due to mutations in the LIPA gene encoding lysosomal acid lipase (LAL). Decrease in activity results in accumulation of cholesteryl esters and triglycerides in various organs. Clinical presentation varies from a rapidly progressive, fatal infantile disease to a less severe, more variable clinical course in older children and adults. Prevalence is estimated at 1 in 40,000-300,000. Many cases remain undiagnosed.