title: Update on lysosomal acid lipase deficiency: Diagnosis, treatment and patient management.
abstract: Lysosomal acid lipase deficiency (LALD) is an ultra-rare disease caused by a congenital disorder of the lipid metabolism, characterized by the deposition of cholesterol esters and triglycerides in the organism. In patients with no enzyme function, the disease develops during the perinatal period and is invariably associated with death during the first year of life. In all other cases, the phenotype is heterogeneous, although most patients develop chronic liver diseases and may also develop an early cardiovascular disease. Treatment for LALD has classically included the use of supportive measures that do not prevent the progression of the disease. In 2015, regulatory agencies approved the use of a human recombinant LAL for the treatment of LALD. This long-term enzyme replacement therapy has been associated with significant improvements in the hepatic and lipid profiles of patients with LALD, increasing survival rates in infants with a rapidly progressive disease. Both the severity of LALD and the availability of a specific treatment highlight the need to identify these patients in clinical settings, although its low prevalence and the existing clinical overlap with other more frequent pathologies limit its diagnosis. In this paper we set out practical recommendations to identify and monitor patients with LALD, including a diagnostic algorithm, along with an updated treatment.
authors.affiliation: Servicio de Hepatología Infantil, Hospital La Paz, Madrid, España.
authors.forename: Carmen
authors.initials: C
authors.lastname: Camarena
authors.affiliation: Unidad de Enfermedades Metabólicas Pediátricas, Hospital Universitario Cruces, Bilbao, España; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, España; CSUR de Enfermedades Metabólicas Congénitas, Ministerio de Sanidad, Madrid, España.
authors.forename: Luis J
authors.initials: LJ
authors.lastname: Aldamiz-Echevarria
authors.affiliation: Servicio de Gastroenterología y Hepatología Pediátrica, Hospital La Fe, Valencia, España.
authors.forename: Begoña
authors.initials: B
authors.lastname: Polo
authors.affiliation: Servicio de Medicina Interna, Complejo Hospitalario y Universitario de Albacete, Universidad de Castilla-La Mancha, Albacete, España.
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Barba Romero
authors.affiliation: Unidad de Enfermedades Metabólicas Pediátricas, Hospital Miguel Servet, Zaragoza, España.
authors.forename: Inmaculada
authors.initials: I
authors.lastname: García
authors.affiliation: Instituto de Investigación Sanitaria Aragón, Unidad de Investigación Traslacional, Hospital Universitario Miguel Servet, Zaragoza, España; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, España.
authors.forename: Jorge J
authors.initials: JJ
authors.lastname: Cebolla
authors.affiliation: Unidad de Lípidos, Servicio de Endocrinología y Nutrición, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, Barcelona, España; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III (ISCIII), Madrid, España. Electronic address: eros@clinic.ub.es.
authors.forename: Emilio
authors.initials: E
authors.lastname: Ros
mesh_terms: D003131:Combined Modality Therapy; D003937:Diagnosis, Differential; D018450:Disease Progression; D056947:Enzyme Replacement Therapy / Q000379:methods; D006801:Humans; D011994:Recombinant Proteins / Q000627:therapeutic use; D002787:Sterol Esterase / Q000627:therapeutic use; D015223:Wolman Disease / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy*
chemical_list: D011994:Recombinant Proteins; C503451:LIPA protein, human; D002787:Sterol Esterase
keywords: Alpha sebelipase; Cholesterol ester storage disease; Deficiencia de lipasa ácida lisosomal; Diagnosis; Diagnóstico; Enfermedad de Wolman; Enfermedad por almacenamiento de ésteres de colesterol; Lysosomal acid lipase deficiency; Sebelipasa alfa; Wolman's disease