2026-04-17T16:15:48Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/125552025-10-24T10:27:59Zcom_2072_378070com_2072_378040col_2072_378092

00925njm 22002777a 4500 dc DE LAS HERAS MONTERO, JAVIER ADOLFO author Almohalla, Carolina author blasco-alonso, javier author Bourbon, Mafalda author Couce, Maria Luz author de Castro López, María José author quintero, jesus author 2025-02-05T12:59:57Z 2025-02-05T12:59:57Z 2024-12-13 Wolman disease; Enzyme replacement therapy; Lysosomal acid lipase deficiency Enfermedad de Wolman; Terapia de reemplazo enzimático; Deficiencia de lipasa ácida lisosomal Malaltia de Wolman; Teràpia de substitució enzimàtica; Deficiència de lipasa àcida lisosomal Lysosomal 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. Funding for medical writing support of this publication was sponsored by Alexion and AstraZeneca Rare Disease as part of an alliance between AstraZeneca and Merck Sharp & Dohme LLC, a subsidiary of Merck & Co., Inc., Rahway, NJ, USA (MSD). 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. http://hdl.handle.net/11351/12555 Metabolisme, Errors congènits del - Tractament Dieta sense greix Enzims - Ús terapèutic Malalties per dipòsit lisosòmic - Tractament Malalties per dipòsit lisosòmic - Diagnòstic DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Lipid Metabolism, Inborn Errors::Lipidoses::Cholesterol Ester Storage Disease::Wolman Disease Other subheadings::Other subheadings::/diagnosis HEALTH CARE::Health Services Administration::Patient Care Management::Disease Management ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Drug Therapy::Enzyme Therapy::Enzyme Replacement Therapy ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Nutrition Therapy::Diet Therapy::Diet, Fat-Restricted ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::alteraciones congénitas del metabolismo lipídico::lipidosis::enfermedad por acumulación de ésteres de colesterol::enfermedad de Wolman Otros calificadores::Otros calificadores::/diagnóstico ATENCIÓN DE SALUD::administración de los servicios de salud::gestión de la atención al paciente::tratamiento de las enfermedades TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::farmacoterapia::terapia enzimática::tratamiento de sustitución enzimática TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapia nutricional::dietoterapia::dieta restrictiva en grasas Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease