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Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease

2024-12-13Clinical study Open access
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dc.contributor.authorde Las Heras, Javier
dc.contributor.authorAlmohalla, Carolina
dc.contributor.authorBlasco-Alonso, Javier
dc.contributor.authorBourbon, Mafalda
dc.contributor.authorCouce, Maria-Luz
dc.contributor.authorde Castro López, María José
dc.contributor.authorGarcía Jiménez, M. Concepción
dc.contributor.authorGil Ortega, David
dc.contributor.authorGonzález-Diéguez, Luisa
dc.contributor.authorMeavilla, Silvia
dc.contributor.authorMoreno-Álvarez, Ana
dc.contributor.authorPastor-Rosado, José
dc.contributor.authorSánchez-Pintos, Paula
dc.contributor.authorSerrano-Gonzalo, Irene
dc.contributor.authorLópez, Eduardo
dc.contributor.authorValdivielso, Pedro
dc.contributor.authorYahyaoui, Raquel
dc.contributor.authorQuintero, Jesús
dc.date.accessioned2025-04-08T12:24:45Z
dc.date.available2025-04-08T12:24:45Z
dc.date.issued2024-12-13
dc.description(This article belongs to the Section Pediatric Nutrition)
dc.description.abstractLysosomal acid lipase deficiency (LAL-D) is an ultra-rare lysosomal storage disease with two distinct phenotypes, an infantile-onset form (formerly Wolman disease) and a later-onset form (formerly cholesteryl ester storage disease). The objective of this narrative review is to examine the most important aspects of the diagnosis and treatment of LAL-D and to provide practical expert recommendations. The infantile-onset form occurs in the first weeks of life and is characterized by malnourishment and failure to thrive due to gastrointestinal impairment (vomiting, diarrhea, malabsorption), as well as systemic inflammation, hepatosplenomegaly, and adrenal calcifications. Mortality is close to 100% before one year of life in the absence of specific treatment. The later-onset form can be diagnosed in childhood or adulthood and is characterized by chronic liver injury and/or lipid profile alterations. When LAL-D is suspected, enzyme activity should be determined to confirm the diagnosis, with analysis from a dried blood spot sample being the quickest and most reliable method. In infantile-onset LAL-D, the initiation of enzyme replacement therapy (sebelipase α) and careful nutritional management with a low-lipid diet is very urgent, as prognosis is directly linked to the early initiation of specific treatment. In recent years, our knowledge of the management of LAL-D has increased considerably, with improvements regarding the initial enzyme replacement therapy dose and careful nutritional treatment with a low-lipid diet to decrease lipid deposition and systemic inflammation, leading to better outcomes. In this narrative review we offer a quick guide for the initial management of infantile-onset LAL-D.
dc.description.sponsorshipFunding for medical writing support of this publication was sponsored by Alexion Pharma Spain S.L. (AstraZeneca Rare Disease Unit). J.d.l.H. acknowledges the Health Department of the Basque Government through a Health Department contract for Intensification of Research Activities, Exp. No. 2023222005.
dc.identifier.citationNutrients. 2024 Dec 13;16(24):4309. doi: 10.3390/nu16244309
dc.identifier.doidoi.org/10.3390/nu16244309
dc.identifier.issn2072-6643
dc.identifier.pmid39770929
dc.identifier.urihttp://hdl.handle.net/10400.18/10498
dc.language.isoeng
dc.peerreviewedyes
dc.publisherMDPI
dc.relation.hasversionhttps://www.mdpi.com/2072-6643/16/24/4309
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectLAL-D
dc.subjectLIPA gene
dc.subjectWolman disease
dc.subjectcholesteryl ester storage disease
dc.subjectdiet
dc.subjectenzyme replacement therapy
dc.subjectinfantile-onset lysosomal acid lipase deficiency
dc.subjectlysosomal acid lipase
dc.subjectlysosomal acid lipase deficiency
dc.subjectsebelipase
dc.titlePractical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Diseasepor
dc.typeclinical study
dspace.entity.typePublication
oaire.citation.issue24
oaire.citation.startPage4309
oaire.citation.titleNutrients
oaire.citation.volume16
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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