Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update

Abstract

Lysosomal acid lipase deficiency (LAL-D) is stilla little recognized genetic disease with significantmorbidity and mortality in children and adults.This document provides guidance on whento suspect LAL-D and how to diagnose it. Itis recommended to add lysosomal acid lipasedeficiency to the list of differential diagnoses ofsepsis, oncological diseases, storage diseases,persistent diarrhea, chronic malnutrition, andhemophagocytic lymphohistiocytosis. It shouldalso be considered in young patients withdyslipidemia and atherosclerosis as well as diseasesassociated with fatty liver and/or hepatomegaly.LAL-D should be suspected in patients withhepatomegaly, hyperlipidemia and/or elevatedtransaminases found during routine checks ortesting for other conditions, and in patientswith cryptogenic cirrhosis. At present, thereis the option of a specific enzyme replacementtreatment.