Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome | Orphanet Journal of Rare Diseases | Full Text

Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome | Orphanet Journal of Rare Diseases | Full Text

Orphanet Journal of Rare Diseases

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

• Giorgia Bucciol,
• David Cassiman,
• Tania Roskams,
• Marleen Renard,
• Ilse Hoffman,
• Peter Witters,
• Rik Schrijvers,
• Heidi Schaballie,
• Barbara Bosch,
• Maria Caterina Putti,
• Olivier Gheysens,
• Noel Knops,
• Marc Gewillig,
• Djalila Mekahli,
• Jacques Pirenne† and
• Isabelle Meyts†Email author

†Contributed equally

Orphanet Journal of Rare Diseases201813:69

https://doi.org/10.1186/s13023-018-0818-2

©  The Author(s). 2018

Received: 10 August 2017

Accepted: 27 April 2018

Published: 2 May 2018

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

Vitamin ALiver transplantationShwachman-Diamond syndromeHepatopulmonary syndrome