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Current Pediatric Reviews

Editor-in-Chief

ISSN (Print): 1573-3963
ISSN (Online): 1875-6336

Review Article

Lysosomal Acid Lipase Deficiency: Could Dyslipidemia Drive the Diagnosis?

Author(s): Ornella Guardamagna* and Federica Guaraldi

Volume 13, Issue 4, 2017

Page: [232 - 242] Pages: 11

DOI: 10.2174/1573396314666180111144514

Price: $65

Abstract

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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