| Literature DB >> 35535100 |
Somashekara H Ramakrishna1, Mohan B Kasala2, Karnan Perumal2, Selvakumar Malleeswaran3, Rajanikanth V Patcha4, Joy Varghese5.
Abstract
Late-onset liposomal acid lipase deficiency (LAL deficiency), previously known as Cholesteryl ester storage disease (CESD) is a rare genetic lysosomal storage disorder caused by deficiency of lysosomal acid lipase (LAL) due to mutations in the LIPA gene. LAL deficiency is a systemic disease that leads to the accumulation of fat and inflammation in the liver, premature atherosclerosis and gastrointestinal disease. Most of the patients require liver transplantation due to decompensated cirrhosis. Enzyme replacement therapy has been approved and is available in many countries. Here we describe a 16-year-old patient who was diagnosed to have late-onset LAL deficiency when he presented to us with ESLD. Subsequently, he underwent a living-donor liver transplant (LDLT) successfully. We discuss the ethical dilemmas in considering LDLT for LAL deficiency.Entities:
Keywords: CE, Cholesteryl ester; CESD; CESD, Cholesteryl ester storage disease; CT, Computerized tomography; ESLD, End-stage liver disease; GRWR, Graft to recipient weight; HDL, High-density lipoprotein; LAL, Lysosomal acid lipase; LAL-D, Lysosomal acid lipase deficiency; LDL, Low-density lipoprotein; LDLT; LDLT, Living-donor liver; LT, Liver transplant; NGS, Next-generation sequencing; PAS-D, Periodic acid-Schiff-diastase; WD, Wolman disease; late-onset LAL deficiency; liver transplantation; sebelipase alfa
Year: 2021 PMID： 35535100 PMCID： PMC9077196 DOI： 10.1016/j.jceh.2021.06.022
Source DB: PubMed Journal: J Clin Exp Hepatol ISSN： 0973-6883