• N. Engl. J. Med. · Nov 2023

    Case Reports

    Liver Transplantation in a Woman with Mahvash Disease.

    • Justin Robbins, Dina Halegoua-DeMarzio, Atrayee Basu Mallick, Namrata Vijayvergia, Rebecca Ganetzky, Harish Lavu, Veda N Giri, Jeffrey Miller, Warren Maley, Ashesh P Shah, Matthew DiMeglio, Manju Ambelil, Run Yu, Takami Sato, and Daniel S Lefler.
    • From the Department of Internal Medicine (J.R., M.D.), the Division of Gastroenterology and Hepatology (D.H.-D., T.S.), the Department of Medical Oncology, Sidney Kimmel Cancer Center (A.B.M., D.S.L.), the Department of Surgery (H.L., W.M., A.P.S.), the Division of Endocrinology, Diabetes, and Metabolic Diseases (J.M.), and the Department of Pathology and Genomics (M.A.), Thomas Jefferson University, the Department of Medical Oncology, Fox Chase Cancer Center (N.V.), and the Division of Human Genetics, Children's Hospital of Philadelphia (R.G.) - all in Philadelphia; the Division of Clinical Cancer Genetics, Section of Medical Oncology, Department of Medicine, Yale School of Medicine and Yale Cancer Center, New Haven, CT (V.N.G.); and the Division of Endocrinology, Diabetes, and Metabolism, David Geffen School of Medicine at UCLA, Los Angeles (R.Y.).
    • N. Engl. J. Med. 2023 Nov 23; 389 (21): 197219781972-1978.

    AbstractMahvash 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.Copyright © 2023 Massachusetts Medical Society.

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