Liver Transplantation in a Woman with Mahvash Disease.
Publication/Presentation Date
11-23-2023
Abstract
Mahvash disease is an exceedingly rare genetic disorder of glucagon signaling characterized by hyperglucagonemia, hyperaminoacidemia, and pancreatic α-cell hyperplasia. Although there is no known definitive treatment, octreotide has been used to decrease systemic glucagon levels. We describe a woman who presented to our medical center after three episodes of small-volume hematemesis. She was found to have hyperglucagonemia and pancreatic hypertrophy with genetically confirmed Mahvash disease and also had evidence of portal hypertension (recurrent portosystemic encephalopathy and variceal hemorrhage) in the absence of cirrhosis. These findings established a diagnosis of portosinusoidal vascular disease, a presinusoidal type of portal hypertension previously known as noncirrhotic portal hypertension. Liver transplantation was followed by normalization of serum glucagon and ammonia levels, reversal of pancreatic hypertrophy, and resolution of recurrent encephalopathy and bleeding varices.
Volume
389
Issue
21
First Page
1972
Last Page
1978
ISSN
1533-4406
Published In/Presented At
Robbins, J., Halegoua-DeMarzio, D., Basu Mallick, A., Vijayvergia, N., Ganetzky, R., Lavu, H., Giri, V. N., Miller, J., Maley, W., Shah, A. P., DiMeglio, M., Ambelil, M., Yu, R., Sato, T., & Lefler, D. S. (2023). Liver Transplantation in a Woman with Mahvash Disease. The New England journal of medicine, 389(21), 1972–1978. https://doi.org/10.1056/NEJMoa2303226
Disciplines
Medicine and Health Sciences
PubMedID
37991855
Department(s)
Department of Surgery
Document Type
Article
