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

Autores
Bay, Luisa; Cañero Velasco, Cristina; Ciocca, Mirta; Cotti, Andrea; Cuarterolo, Miriam; Fainboim, Alejandro; Fassio, Eduardo; Galoppo, Marcela; Piñero, Federico; Rozenfeld, Paula
Año de publicación
2017
Idioma
inglés
Tipo de recurso
reseña artículo
Estado
versión publicada
Descripción
Lysosomal acid lipase deficiency (LAL-D) is still a little recognized genetic disease with significant morbidity and mortality in children and adults. This document provides guidance on when to suspect LAL-D and how to diagnose it. It is recommended to add lysosomal acid lipase deficiency to the list of differential diagnoses of sepsis, oncological diseases, storage diseases, persistent diarrhea, chronic malnutrition, and hemophagocytic lymphohistiocytosis. It should also be considered in young patients with dyslipidemia and atherosclerosis as well as diseases associated with fatty liver and/or hepatomegaly. LAL-D should be suspected in patients with hepatomegaly, hyperlipidemia and/or elevated transaminases found during routine checks or testing for other conditions, and in patients with cryptogenic cirrhosis. At present, there is the option of a specific enzyme replacement treatment.
Instituto de Estudios Inmunológicos y Fisiopatológicos
Facultad de Ciencias Exactas
Materia
Ciencias Médicas
Ciencias Exactas
Cirrhosis
Dyslipidemias
Lysosomal acid lipase deficiency
Non-alcoholic fatty liver disease
Wolman disease
Nivel de accesibilidad
acceso abierto
Condiciones de uso
http://creativecommons.org/licenses/by-nc-sa/4.0/
Repositorio
SEDICI (UNLP)
Institución
Universidad Nacional de La Plata
OAI Identificador
oai:sedici.unlp.edu.ar:10915/87678
Acceder
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network_name_str SEDICI (UNLP)
spelling Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An updateBay, LuisaCañero Velasco, CristinaCiocca, MirtaCotti, AndreaCuarterolo, MiriamFainboim, AlejandroFassio, EduardoGaloppo, MarcelaPiñero, FedericoRozenfeld, PaulaCiencias MédicasCiencias ExactasCirrhosisDyslipidemiasLysosomal acid lipase deficiencyNon-alcoholic fatty liver diseaseWolman diseaseLysosomal acid lipase deficiency (LAL-D) is still a little recognized genetic disease with significant morbidity and mortality in children and adults. This document provides guidance on when to suspect LAL-D and how to diagnose it. It is recommended to add lysosomal acid lipase deficiency to the list of differential diagnoses of sepsis, oncological diseases, storage diseases, persistent diarrhea, chronic malnutrition, and hemophagocytic lymphohistiocytosis. It should also be considered in young patients with dyslipidemia and atherosclerosis as well as diseases associated with fatty liver and/or hepatomegaly. LAL-D should be suspected in patients with hepatomegaly, hyperlipidemia and/or elevated transaminases found during routine checks or testing for other conditions, and in patients with cryptogenic cirrhosis. At present, there is the option of a specific enzyme replacement treatment.Instituto de Estudios Inmunológicos y FisiopatológicosFacultad de Ciencias Exactas2017info:eu-repo/semantics/reviewinfo:eu-repo/semantics/publishedVersionRevisionhttp://purl.org/coar/resource_type/c_dcae04bcinfo:ar-repo/semantics/resenaArticuloapplication/pdf287-293http://sedici.unlp.edu.ar/handle/10915/87678enginfo:eu-repo/semantics/altIdentifier/issn/0325-0075info:eu-repo/semantics/altIdentifier/doi/10.5546/aap.2017.eng.287info:eu-repo/semantics/reference/hdl/10915/124209info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-sa/4.0/Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)reponame:SEDICI (UNLP)instname:Universidad Nacional de La Platainstacron:UNLP2025-09-29T11:17:14Zoai:sedici.unlp.edu.ar:10915/87678Institucionalhttp://sedici.unlp.edu.ar/Universidad públicaNo correspondehttp://sedici.unlp.edu.ar/oai/snrdalira@sedici.unlp.edu.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:13292025-09-29 11:17:14.36SEDICI (UNLP) - Universidad Nacional de La Platafalse
dc.title.none.fl_str_mv Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
title Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
spellingShingle Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
Bay, Luisa
Ciencias Médicas
Ciencias Exactas
Cirrhosis
Dyslipidemias
Lysosomal acid lipase deficiency
Non-alcoholic fatty liver disease
Wolman disease
title_short Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
title_full Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
title_fullStr Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
title_full_unstemmed Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
title_sort Liver disease and dyslipidemia as a manifestation of lysosomal acid lipase deficiency (LAL-D). Clinical and diagnostic aspects, and a new treatment. An update
dc.creator.none.fl_str_mv Bay, Luisa
Cañero Velasco, Cristina
Ciocca, Mirta
Cotti, Andrea
Cuarterolo, Miriam
Fainboim, Alejandro
Fassio, Eduardo
Galoppo, Marcela
Piñero, Federico
Rozenfeld, Paula
author Bay, Luisa
author_facet Bay, Luisa
Cañero Velasco, Cristina
Ciocca, Mirta
Cotti, Andrea
Cuarterolo, Miriam
Fainboim, Alejandro
Fassio, Eduardo
Galoppo, Marcela
Piñero, Federico
Rozenfeld, Paula
author_role author
author2 Cañero Velasco, Cristina
Ciocca, Mirta
Cotti, Andrea
Cuarterolo, Miriam
Fainboim, Alejandro
Fassio, Eduardo
Galoppo, Marcela
Piñero, Federico
Rozenfeld, Paula
author2_role author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Ciencias Médicas
Ciencias Exactas
Cirrhosis
Dyslipidemias
Lysosomal acid lipase deficiency
Non-alcoholic fatty liver disease
Wolman disease
topic Ciencias Médicas
Ciencias Exactas
Cirrhosis
Dyslipidemias
Lysosomal acid lipase deficiency
Non-alcoholic fatty liver disease
Wolman disease
dc.description.none.fl_txt_mv Lysosomal acid lipase deficiency (LAL-D) is still a little recognized genetic disease with significant morbidity and mortality in children and adults. This document provides guidance on when to suspect LAL-D and how to diagnose it. It is recommended to add lysosomal acid lipase deficiency to the list of differential diagnoses of sepsis, oncological diseases, storage diseases, persistent diarrhea, chronic malnutrition, and hemophagocytic lymphohistiocytosis. It should also be considered in young patients with dyslipidemia and atherosclerosis as well as diseases associated with fatty liver and/or hepatomegaly. LAL-D should be suspected in patients with hepatomegaly, hyperlipidemia and/or elevated transaminases found during routine checks or testing for other conditions, and in patients with cryptogenic cirrhosis. At present, there is the option of a specific enzyme replacement treatment.
Instituto de Estudios Inmunológicos y Fisiopatológicos
Facultad de Ciencias Exactas
description Lysosomal acid lipase deficiency (LAL-D) is still a little recognized genetic disease with significant morbidity and mortality in children and adults. This document provides guidance on when to suspect LAL-D and how to diagnose it. It is recommended to add lysosomal acid lipase deficiency to the list of differential diagnoses of sepsis, oncological diseases, storage diseases, persistent diarrhea, chronic malnutrition, and hemophagocytic lymphohistiocytosis. It should also be considered in young patients with dyslipidemia and atherosclerosis as well as diseases associated with fatty liver and/or hepatomegaly. LAL-D should be suspected in patients with hepatomegaly, hyperlipidemia and/or elevated transaminases found during routine checks or testing for other conditions, and in patients with cryptogenic cirrhosis. At present, there is the option of a specific enzyme replacement treatment.
publishDate 2017
dc.date.none.fl_str_mv 2017
dc.type.none.fl_str_mv info:eu-repo/semantics/review
info:eu-repo/semantics/publishedVersion
Revision
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info:ar-repo/semantics/resenaArticulo
format review
status_str publishedVersion
dc.identifier.none.fl_str_mv http://sedici.unlp.edu.ar/handle/10915/87678
url http://sedici.unlp.edu.ar/handle/10915/87678
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/issn/0325-0075
info:eu-repo/semantics/altIdentifier/doi/10.5546/aap.2017.eng.287
info:eu-repo/semantics/reference/hdl/10915/124209
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by-nc-sa/4.0/
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)
eu_rights_str_mv openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc-sa/4.0/
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)
dc.format.none.fl_str_mv application/pdf
287-293
dc.source.none.fl_str_mv reponame:SEDICI (UNLP)
instname:Universidad Nacional de La Plata
instacron:UNLP
reponame_str SEDICI (UNLP)
collection SEDICI (UNLP)
instname_str Universidad Nacional de La Plata
instacron_str UNLP
institution UNLP
repository.name.fl_str_mv SEDICI (UNLP) - Universidad Nacional de La Plata
repository.mail.fl_str_mv alira@sedici.unlp.edu.ar
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