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Orthotopic Liver Transplantation in an Adult with Cholesterol Ester Storage Disease

  • Graeme K Ambler
  • Matthew Hoare
  • Rebecca Brais
  • Ashley Shaw
  • Andrew Butler
  • Paul Flynn
  • Patrick Deegan
  • William J H Griffiths
Case Report
Part of the JIMD Reports book series (JIMD, volume 8)

Abstract

Cholesterol ester storage disease (CESD) is a rare autosomal recessive lipid storage disorder associated with mutations of the gene encoding lysosomal acid lipase, manifestations of which include chronic liver disease and early atherosclerosis. Although normally presenting in childhood, severity is variable and the condition can occasionally remain undetected until middle age. Typical presentation is with asymptomatic hepatosplenomegaly and hyperlipidaemia, though the condition is probably underdiagnosed. Treatment is supportive and may include attention to cardiovascular risk factors. Phase I/II trials of enzyme replacement therapy are ongoing, but this approach remains experimental. We present the case of a 42-year-old woman diagnosed with CESD in childhood who ran an indolent course until re-presentation with cirrhotic hydrothorax. She underwent orthotopic liver transplantation but required re-transplantation for hepatic artery thrombosis. She remains well with excellent graft function 2 years later. Although atherosclerosis was apparent at assessment, and may have contributed to hepatic artery thrombosis, partial correction of the metabolic defect and restoration of liver function by transplantation together with ongoing medical therapy should permit reasonable survival over the longer term from both a liver and a vascular perspective. This is the first reported case of orthotopic liver transplantation for CESD in an adult, which was the only available option to improve survival. The case highlights the importance of monitoring patients with CESD through adulthood and suggests that liver replacement at a later stage may yet be indicated and remain of benefit.

Keywords

Enzyme Replacement Therapy Transjugular Intrahepatic Portosystemic Shunt Orthotopic Liver Transplantation Hepatic Artery Thrombosis Lysosomal Acid Lipase Deficiency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Graeme K Ambler
    • 1
  • Matthew Hoare
    • 2
    • 3
  • Rebecca Brais
    • 4
  • Ashley Shaw
    • 5
  • Andrew Butler
    • 1
  • Paul Flynn
    • 3
  • Patrick Deegan
    • 3
  • William J H Griffiths
    • 2
  1. 1.Department of SurgeryCambridge University HospitalsCambridgeUK
  2. 2.Department of HepatologyCambridge University HospitalsCambridgeUK
  3. 3.Department of MedicineCambridge University HospitalsCambridgeUK
  4. 4.Department of PathologyCambridge University HospitalsCambridgeUK
  5. 5.Department of RadiologyCambridge University HospitalsCambridgeUK

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