Lysosomal acid lipase deficiency: The forgotten link between liver and cardiovascular disease

Figure 1 Assessments for the diagnostic pathway of lysosomal acid lipase deficiency. ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; TC: Total cholesterol; LDL-c: LDL cholesterol; HDL-c: HDL cholesterol; ChT: Chitotriosidase; PARC: Pulmonary and activation-regulated chemokine; WGS: Whole genome sequencing; LAL: Lysosomal acid lipase; WGS: Whole genome sequencing.

Figure 2 Biological implications of lysosomal acid lipase deficiency. Lysosomal acid lipase deficiency leads to defective hydrolysis of cholesteryl esters and triglycerides in lysosomes, causing their accumulation in multiple tissues and triggering systemic dysfunction. LDL-c: LDL cholesterol; CE: Cholesteryl esters; TG: Triglycerides.