TY - JOUR
T1 - Liver disease and transplantation in telomere biology disorders
T2 - An international multicenter cohort
AU - Clinical Care Consortium for Telomere-associated Ailments (CCCTAA)
AU - Wang, Yun Zu Michele
AU - Kaj-Carbaidwala, Batul
AU - Lane, Adam
AU - Agarwal, Suneet
AU - Beier, Fabian
AU - Bertuch, Alison
AU - Borovsky, Kristin A.
AU - Brennan, Steven K.
AU - Calado, Rodrigo T.
AU - Catto, Luiz Fernando B.
AU - Dufour, Carlo
AU - Ebens, Christen L.
AU - Fioredda, Francesca
AU - Giri, Neelam
AU - Gloude, Nicholas
AU - Goldman, Frederick
AU - Hertel, Paula M.
AU - Himes, Ryan
AU - Keel, Sioban B.
AU - Koura, Divya T.
AU - Kratz, Christian P.
AU - Kulkarni, Sakil
AU - Liou, Iris
AU - Nakano, Taizo A.
AU - Nastasio, Silvia
AU - Niewisch, Marena R.
AU - Penrice, Daniel D.
AU - Sasa, Ghadir S.
AU - Savage, Sharon A.
AU - Simonetto, Douglas A.
AU - Ziegler, David S.
AU - Miethke, Alexander G.
AU - Myers, Kasiani C.
N1 - Publisher Copyright:
Copyright © 2024 The Author(s).
PY - 2024/6
Y1 - 2024/6
N2 - 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 all nontransplant patients (log-rank test p = 0.02). Of 14 patients with pretransplant hypoxemia, 8 (57%) had improved oxygenation after transplant. Conclusions: LT recipients with TBD do not exhibit excessive posttransplant mortality, and LT improved respiratory status in 57%. A TBD diagnosis should not exclude LT consideration.
AB - 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 all nontransplant patients (log-rank test p = 0.02). Of 14 patients with pretransplant hypoxemia, 8 (57%) had improved oxygenation after transplant. Conclusions: LT recipients with TBD do not exhibit excessive posttransplant mortality, and LT improved respiratory status in 57%. A TBD diagnosis should not exclude LT consideration.
UR - http://www.scopus.com/inward/record.url?scp=85198644952&partnerID=8YFLogxK
U2 - 10.1097/HC9.0000000000000462
DO - 10.1097/HC9.0000000000000462
M3 - Article
C2 - 38896081
AN - SCOPUS:85198644952
SN - 2471-254X
VL - 8
SP - e0462
JO - Hepatology Communications
JF - Hepatology Communications
IS - 7
ER -