title: Does Lysosomial Acid Lipase Reduction Play a Role in Adult Non-Alcoholic Fatty Liver Disease?
abstract: Lysosomal Acid Lipase (LAL) is a key enzyme involved in lipid metabolism, responsible for hydrolysing the cholesteryl esters and triglycerides. Wolman Disease represents the early onset phenotype of LAL deficiency rapidly leading to death. Cholesterol Ester Storage Disease is a late onset phenotype that occurs with fatty liver, elevated aminotransferase levels, hepatomegaly and dyslipidaemia, the latter characterized by elevated LDL-C and low HDL-C. The natural history and the clinical manifestations of the LAL deficiency in adults are not well defined, and the diagnosis is often incidental. LAL deficiency has been suggested as an under-recognized cause of dyslipidaemia and fatty liver. Therefore, LAL activity may be reduced also in non-obese patients presenting non-alcoholic fatty liver disease (NAFLD), unexplained persistently elevated liver transaminases or with elevation in LDL cholesterol. In these patients, it could be indicated to test LAL activity. So far, very few studies have been performed to assess LAL activity in representative samples of normal subjects or patients with NAFLD. Moreover, no large study has been carried out in adult subjects with NAFLD or cryptogenic cirrhosis.
authors.affiliation: Department of Internal Medicine and Medical Specialities and Department of Anatomical, Histological, Forensic Medicine and Orthopedics Sciences-Sapienza University, Rome 00185, Italy. francesco.baratta@uniroma1.it.
authors.forename: Francesco
authors.initials: F
authors.lastname: Baratta
authors.affiliation: Department of Internal Medicine and Medical Specialities and Department of Anatomical, Histological, Forensic Medicine and Orthopedics Sciences-Sapienza University, Rome 00185, Italy. daniele.pastori@uniroma1.it.
authors.forename: Daniele
authors.initials: D
authors.lastname: Pastori
authors.affiliation: Department of Internal Medicine and Medical Specialities and Department of Anatomical, Histological, Forensic Medicine and Orthopedics Sciences-Sapienza University, Rome 00185, Italy. licia.polimeni@uniroma1.it.
authors.forename: Licia
authors.initials: L
authors.lastname: Polimeni
authors.affiliation: Unit for Neuromuscular and Neurodegenerative Diseases, Children's Hospital and Research Institute "Bambino Gesù", Rome 00165, Italy. giulia.tozzi@opbg.net.
authors.forename: Giulia
authors.initials: G
authors.lastname: Tozzi
authors.affiliation: Department of Internal Medicine and Medical Specialities, Sapienza University, Rome 00185, Italy. francesco.violi@uniroma1.it.
authors.forename: Francesco
authors.initials: F
authors.lastname: Violi
authors.affiliation: Department of Public Health and Infectious Diseases, Sapienza University, Policlinico Umberto I, I Clinica Medica, Viale del Policlinico 155, Rome 00161, Italy. francesco.angelico@uniroma1.it.
authors.forename: Francesco
authors.initials: F
authors.lastname: Angelico
authors.affiliation: Department of Internal Medicine and Medical Specialities, Sapienza University, Rome 00185, Italy. maria.delben@uniroma1.it.
authors.forename: Maria
authors.initials: M
authors.lastname: Del Ben
mesh_terms: D000328:Adult; D050197:Atherosclerosis / Q000209:etiology / Q000378:metabolism; D015415:Biomarkers; D002318:Cardiovascular Diseases / Q000209:etiology / Q000378:metabolism; D004789:Enzyme Activation; D006801:Humans; D050356:Lipid Metabolism / Q000235:genetics; D008099:Liver / Q000378:metabolism / Q000473:pathology; D065626:Non-alcoholic Fatty Liver Disease / Q000150:complications / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism*; D002787:Sterol Esterase / Q000235:genetics / Q000378:metabolism*; D015223:Wolman Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics
chemical_list: D015415:Biomarkers; D002787:Sterol Esterase
keywords: Wolman Disease; cholesterol ester storage disease; hypercholesterolemia; lysosomial acid lipase; non-alcoholic fatty liver disease