LAL-deficiency (LAL-D) is a rare and systemic condition, secondary to LIPA gene mutations,
responsible for lysosomal accumulation of cholesteryl esters and triglycerides, whose manifestations
are very heterogeneous in terms of the age of onset, severity and the type of clinical and radiological
manifestations. Dyslipidemia, hepatomegaly and hepatosteatosis with increased levels of
transaminases are the most common features. The increased risk of premature atherosclerosis and
cardiovascular disorders, secondary to a generalized alteration of lipid profile and lipoprotein dysfunction
associated with LAL-D, has been increasingly pointed out. Therefore, medical awareness
towards LAL-deficiency should be increased, since this condition has to be considered in the differential
diagnosis of pediatric conditions manifested with dyslipidemia and hepatic accumulation of
intracellular products. On the other hand, early patient identification and management remain challenging.
Keywords: Lysosomal Acid Lipase deficiency, CESD, children, hypercholesterolemia, dyslipidemia, cardiovascular prevention.
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