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

• Published in: Orphanet journal of rare diseases Vol. 13; no. 1; pp. 69 - 6
• Main Authors: Bucciol, Giorgia, Cassiman, David, Roskams, Tania, Renard, Marleen, Hoffman, Ilse, Witters, Peter, Schrijvers, Rik, Schaballie, Heidi, Bosch, Barbara, Putti, Maria Caterina, Gheysens, Olivier, Knops, Noel, Gewillig, Marc, Mekahli, Djalila, Pirenne, Jacques, Meyts, Isabelle
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 02.05.2018; BioMed Central; BMC
• Subjects: Bone Marrow Diseases - surgery; Care and treatment; Child; Child, Preschool; Complications and side effects; Development and progression; Exocrine Pancreatic Insufficiency - surgery; Female; Fibrosis; Genetic disorders; Hepatopulmonary syndrome; Hepatopulmonary Syndrome - etiology; Hepatopulmonary Syndrome - surgery; Humans; Letter to the Editor; Lipomatosis - surgery; Liver diseases; Liver Diseases - complications; Liver Diseases - etiology; Liver transplantation; Liver Transplantation - methods; Metabolic diseases; Physiological aspects; Shwachman-Diamond syndrome; Vitamin A; Vitamin A - toxicity; Vitamin A; Shwachman-Diamond syndrome; Hepatopulmonary syndrome; Liver transplantation
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-018-0818-2

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.