Liver disease and transplantation in telomere biology disorders: An international multicenter cohort

作者：YunZu Michele Wang, Batul Kaj‐Carbaidwala, Adam Lane, Suneet Agarwal, Fabian Beier, Alison A. Bertuch, Kristin A. Borovsky, Steven K. Brennan, Rodrigo T. Calado, Luiz Fernando Bazzo Catto, Carlo Dufour, Christen L. Ebens, Francesca Fioredda, Neelam Giri, Nicholas J. Gloude, Frederick D. Goldman, Paula M. Hertel, Ryan Himes, Sioḃán Keel, Divya Koura, Christian P. Kratz, Sakil Kulkarni, Iris Liou, Taizo A. Nakano, Silvia Nastasio, Marena R. Niewisch, Daniel D. Penrice, Ghadir Sasa, Sharon A. Savage, Douglas A. Simonetto, David S. Ziegler, Alexander Miethke, Kasiani C. Myers · 发表于：Hepatology Communications · 年份：2024 · DOI：10.1097/hc9.0000000000000462 · 被引用次数：11 · 研究领域：Telomeres, Telomerase, and Senescence、Nuclear Structure and Function、RNA regulation and disease

BACKGROUND: Patients with telomere biology disorders (TBD) develop hepatic disease, including hepatitis, cirrhosis, and hepatopulmonary syndrome. No specific treatment exists for TBD-related liver disease, and the role of liver transplantation (LT) remains controversial. Our study objectives were to describe the clinical characteristics, management, and outcomes in patients with TBD-related liver disease, and their LT outcomes. METHODS: Data from 83 patients with TBD-associated liver disease were obtained from 17 participating centers in the Clinical Care Consortium of Telomere-Associated Ailments and by self-report for our retrospective, multicenter, international cohort study. RESULTS: Group A ("Advanced") included 40 patients with advanced liver disease. Of these, 20 underwent LT (Group AT). Group M ("Mild") included 43 patients not warranting LT evaluation, none of whom were felt to be medically unfit for liver transplantation. Supplemental oxygen requirement, pulmonary arteriovenous malformation, hepatopulmonary syndrome, and higher bilirubin and international normalized ratio values were associated with Group A. Other demographics, clinical manifestations, and laboratory findings were similar between groups. Six group A patients were declined for LT; 3 died on the waitlist. Median follow-up post-LT was 2.9 years (range 0.6-13.2 y). One-year survival post-LT was 73%. Median survival post-LT has not been reached. Group AT patients had improved survival by age compared to ...