title: Successful long-term outcome of liver transplantation in late-onset lysosomal acid lipase deficiency.
abstract: Late-onset LAL deficiency, previously referred to as cholesteryl ester storage disorder, is a rare lysosomal storage disorder characterized by accumulation of cholesteryl esters. It has a heterogeneous clinical phenotype including abdominal pain, poor growth, hyperlipidemia with vascular complications and hepatosplenomegaly. End-stage liver disease may occur, but there are few reports of successful LT. There are also concerns that systemic manifestations of the disease might persist post-LT. We report a case with excellent outcome eight yr following LT. The subject was noted to have asymptomatic hepatosplenomegaly during an intercurrent illness, and LAL deficiency was confirmed with compound heterozygosity in the LIPA. Despite dietary fat restriction, he developed signs of progressive liver disease and subsequently developed hepatopulmonary syndrome. He underwent cadaveric LT at the age of nine and a half yr and recovered with prompt resolution of hepatopulmonary syndrome. Eight yr post-transplant he has normal growth, normal lipid profile, and liver and renal function tests. Liver histology showed no evidence of disease recurrence at this stage. LT in this subject resulted in an excellent functional correction of late-onset LAL deficiency.
authors.affiliation: Department of Metabolic Medicine, Birmingham Children's Hospital, Birmingham, UK.
authors.forename: S
authors.initials: S
authors.lastname: Sreekantam
authors.affiliation: Department of Histopathology, Birmingham Children's Hospital, Birmingham, UK.
authors.forename: I
authors.initials: I
authors.lastname: Nicklaus-Wollenteit
authors.affiliation: Department of Hepatology and Gastroenterology, Freeman Hospital, Newcastle upon Tyne, UK.
authors.forename: J
authors.initials: J
authors.lastname: Orr
authors.affiliation: Department of Hepatology, Birmingham Children's Hospital, Birmingham, UK.
authors.forename: K
authors.initials: K
authors.lastname: Sharif
authors.affiliation: Department of Metabolic Medicine, Birmingham Children's Hospital, Birmingham, UK.
authors.forename: S
authors.initials: S
authors.lastname: Vijay
authors.affiliation: Department of Hepatology, Birmingham Children's Hospital, Birmingham, UK.
authors.forename: P J
authors.initials: PJ
authors.lastname: McKiernan
authors.affiliation: Department of Metabolic Medicine, Birmingham Children's Hospital, Birmingham, UK.
authors.forename: S
authors.initials: S
authors.lastname: Santra
mesh_terms: D002648:Child; D006801:Humans; D016031:Liver Transplantation; D008297:Male; D015223:Wolman Disease / Q000601:surgery*
keywords: LAL deficiency; cholesteryl ester storage disorder; late onset acid lipase deficiency; liver transplantation