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

Authors
Bay, Maria Luisa; Cañero Velasco, Cristina; Ciocca, Mirta; Cotti, Andrea; Cuarterolo, Miriam; Fainboim, Alejandro; Fassio, Eduardo; Galoppo, Marcela; Piñero, Federico; Rozenfeld, Paula Adriana
Publication Year
2017
Language
Spanish
Format
article
Status
Published version
Description
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.
Fil: Bay, Maria Luisa. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Cañero Velasco, Cristina. Hospital de Niños de San Justo; Argentina
Fil: Ciocca, Mirta. Hospital Alemán; Argentina
Fil: Cotti, Andrea. Hospital Universitario Austral; Argentina
Fil: Cuarterolo, Miriam. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina
Fil: Fainboim, Alejandro. Hospital de Niños Ricardo Gutiérrez; Argentina
Fil: Fassio, Eduardo. Hospital Nacional Prof. Alejandro Posadas; Argentina
Fil: Galoppo, Marcela. Hospital de Niños Ricardo Gutiérrez; Argentina
Fil: Piñero, Federico. Hospital Universitario Austral; Argentina
Fil: Rozenfeld, Paula Adriana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata. Instituto de Estudios Inmunológicos y Fisiopatológicos. Universidad Nacional de La Plata. Facultad de Ciencias Exactas. Instituto de Estudios Inmunológicos y Fisiopatológicos; Argentina
Subject
CHYRROSIS
DYSLIPIDEMIAS
WOLMAN DISEASE
NON ALCOHOLIC FATTY LIVER DISEASE
Inmunología
Medicina Básica
CIENCIAS MÉDICAS Y DE LA SALUD
Access level
Restricted access
License
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repository
CONICET Digital (CONICET)
Institution
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identifier
oai:ri.conicet.gov.ar:11336/51656