Does Lysosomial Acid Lipase Reduction Play a Role in Adult Non-Alcoholic Fatty Liver Disease?

International Journal of Molecular Sciences

Francesco Baratta⁴  Daniele Pastori⁴  Licia Polimeni⁴  Giulia Tozzi³  Francesco Violi²  Francesco Angelico¹  Maria Del Ben² 

[1] Department of Public Health and Infectious Diseases, Sapienza University, Policlinico Umberto I, I Clinica Medica, Viale del Policlinico 155, Rome 00161, ItalyDepartment of Internal Medicine and Medical Specialities, Sapienza University, Rome 00185, Italy;Unit for Neuromuscular and Neurodegenerative Diseases, Children’s Hospital and Research Institute “Bambino Gesù”, Rome 00165, Italy;Department of Internal Medicine and Medical Specialities and Department of Anatomical, Histological, Forensic Medicine and Orthopedics Sciences-Sapienza University, Rome 00185, Italy;

关键词: lysosomial acid lipase;    non-alcoholic fatty liver disease;    Wolman Disease;    cholesterol ester storage disease;    hypercholesterolemia;   

DOI  :  10.3390/ijms161226085

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2015 by the authors; licensee MDPI, Basel, Switzerland.