Outcomes following liver transplant in adults with telomere biology disorders

Penrice, Daniel D.; Havlichek, Daniel H.; Kamath, Patrick S.; Simonetto, Douglas A.

doi:10.1016/j.jhep.2021.07.022

Cited by 5 publications

(4 citation statements)

References 8 publications

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“…Five LT recipients included in this analysis have been previously reported in the literature. 26 , 33 Group M included 43 patients with mild liver disease. At the time of liver disease diagnosis, there were no significant differences between Groups A and M in age, gender, ethnicity, race, or genetic variant.…”

Section: Resultsmentioning

confidence: 99%

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

Wang,

Kaj-Carbaidwala,

Lane

et al. 2024

Hepatology Communications

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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.

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Section: Resultsmentioning

confidence: 99%

“…Group A was composed of 40 patients referred for LT evaluation, of whom 20 underwent LT (Group A T ). Five LT recipients included in this analysis have been previously reported in the literature 26,33 . Group M included 43 patients with mild liver disease.…”

Section: Resultsmentioning

confidence: 99%

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

Wang,

Kaj-Carbaidwala,

Lane

et al. 2024

Hepatology Communications

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“…A recent report of 4 cases of LT suggests that LT for hepatic complications of telomere disorder is a safe option to be considered when indicated. [36] Although there is no existing national policy on LT in TRG mutations, this option is discussed in a transplant multidisciplinary team. In some centers, cases of patients requiring organ or bone marrow transplantation are discussed in specific telomere expert multidisciplinary team meetings in addition to transplant multidisciplinary teams.…”

Section: Discussionmentioning

confidence: 99%

“…It was higher than that for other chronic liver diseases, probably because multiple organ transplants were performed and due to the severe complications of immunosuppressive therapy, especially in patients with severe pancytopenia. A recent report of 4 cases of LT suggests that LT for hepatic complications of telomere disorder is a safe option to be considered when indicated 36 . Although there is no existing national policy on LT in TRG mutations, this option is discussed in a transplant multidisciplinary team.…”

Section: Discussionmentioning

confidence: 99%

Liver disease in germline mutations of telomere-related genes: Prevalence, clinical, radiological, pathological features, outcome, and risk factors

Sidali,

Borie,

Sicre de Fontbrune

et al. 2023

Hepatology

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Background and aim: Germline mutations of telomere-related genes (TRG) induce multiorgan dysfunction, and liver-specific manifestations have not been clearly outlined. We aimed to describe TRG mutations-associated liver diseases. Approach and results: Retrospective multicentre analysis of liver disease (transaminases>30 IU/L and/or abnormal liver imaging) in patients with TRG mutations. Main measurements were characteristics, outcomes, and risk factors of liver disease in a TRG mutations cohort. The prevalence of liver disease was compared to a community-based control group (n=1190) stratified for age and matched 1:3 for known risk factors of liver disease. Among 132 patients with TRG mutations, 95 (72%) had liver disease, with associated lung, blood, skin, rheumatological and ophthalmological TRG diseases in 82%, 77%, 55%, 39%, and 30% of cases, respectively. Liver biopsy was performed in 52/95 patients, identifying porto-sinusoidal vascular disease (PSVD) in 48%, and advanced fibrosis/cirrhosis in 15%. After a follow-up of 21 months (12-54), ascites, hepato-pulmonary syndrome, variceal bleeding, and hepatocellular carcinoma occurred in 14%, 13%, 13%, and 2% of cases, respectively. Five-year liver transplantation-free survival was 69%. A FIB-4 score ≥3·25 and ≥1 risk factor for cirrhosis were associated with poor liver transplantation-free survival. Liver disease was more frequent in patients with TRG mutations than in the paired control group (80/396, (20%)), OR 12.9 (CI95% 7.8-21.3, p<0.001). Conclusions: TRG mutations significantly increase the risk of developing liver disease. Although symptoms may be mild they may be associated with severe disease. PSVD and cirrhosis were the most frequent lesions suggesting that the mechanism of action is multifactorial.

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Telomere Biology Disorder: A Focus on Gastrointestinal and Hepatic Manifestations

Warsame,

Simonetto

2024

Curr Hematol Malig Rep

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Outcomes following liver transplant in adults with telomere biology disorders

Cited by 5 publications

References 8 publications

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

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

Liver disease in germline mutations of telomere-related genes: Prevalence, clinical, radiological, pathological features, outcome, and risk factors

Telomere Biology Disorder: A Focus on Gastrointestinal and Hepatic Manifestations

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