Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome

Orphanet J Rare Dis. 2018 May 2;13(1):69. doi: 10.1186/s13023-018-0818-2.

Abstract

Vitamin A intoxication is a rare cause of liver disease, but the risk increases in patients with underlying liver dysfunction. We present a patient with Shwachman-Diamond Syndrome who developed liver fibrosis, portal hypertension and very severe hepatopulmonary syndrome as a consequence of chronic vitamin A intoxication. She underwent successful liver transplantation with complete resolution of the pulmonary shunting.

Keywords: Hepatopulmonary syndrome; Liver transplantation; Shwachman-Diamond syndrome; Vitamin A.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Marrow Diseases / surgery*
  • Child
  • Child, Preschool
  • Exocrine Pancreatic Insufficiency / surgery*
  • Female
  • Hepatopulmonary Syndrome / etiology*
  • Hepatopulmonary Syndrome / surgery*
  • Humans
  • Lipomatosis / surgery*
  • Liver Diseases / complications*
  • Liver Diseases / etiology
  • Liver Transplantation / methods*
  • Shwachman-Diamond Syndrome
  • Vitamin A / toxicity*

Substances

  • Vitamin A