ArticleHepatology (Baltimore, Md.)2019
The Spectrum of Hepatic Involvement in Patients With Telomere Disease.
Article in Hepatology (Baltimore, Md.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Non-cirrhotic portal fibrosis/idiopathic portal hypertension: APASL recommendations for diagnosis and management.Hepatology international · 2024Guideline
- Trial
- Liver-associated findings and outcomes in a telomere biology disorders clinic.Hepatology communications · 2026Article
- TeloNet is born: why all specialities need to be aware of telomere biology disorders.Frontiers in medicine · 2026Review
- Telomere Length Abnormality: Investigating Approaches and Correlations with Cancer, Bone Marrow Failure and Hematological Malignancies.Biomedicines · 2025Review
- Telomere biology disorders in lung transplantation: Clinical challenges and management strategies.JHLT open · 2025Review
- Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort.Blood advances · 2025Article
- Liver involvement in dyskeratosis congenita-Case series and concise literature review.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2025Article
- TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report.Journal of medical case reports · 2025Article
- Pulmonary, Hepatic, and Allogeneic Hematopoietic Stem Cell Transplantation in Patients with Telomere Biology Disorders.Current hematologic malignancy reports · 2024Review
- Inherited Telomere Biology Disorders: Pathophysiology, Clinical Presentation, Diagnostics, and Treatment.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2024Review
- High prevalence of short telomeres in idiopathic porto-sinusoidal vascular disorder.Hepatology communications · 2024Article
- Liver disease and transplantation in telomere biology disorders: An international multicenter cohort.Hepatology communications · 2024Article
- Telomere Biology Disorder: A Focus on Gastrointestinal and Hepatic Manifestations.Current hematologic malignancy reports · 2024Review
- Clinical manifestations of telomere biology disorders in adults.Hematology. American Society of Hematology. Education Program · 2023Review
- Article
- Inverse Association of Telomere Length With Liver Disease and Mortality in the US Population.Hepatology communications · 2022Article
- Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.Frontiers in oncology · 2022Review
- Recent advances in understanding telomere diseases.Faculty reviews · 2022Review
- Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.Molecular genetics & genomic medicine · 2021Article
Corrections and comments
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Authors and funding
15 authors.
Funding
Abstract
Loss-of-function mutations in genes that encode for components of the telomere repair complex cause accelerated telomere shortening. Hepatic involvement has been recognized as a cause of morbidity in telomere diseases, but very few studies have characterized the nature and extent of liver involvement in affected patients. We report the prevalence and characteristics of liver involvement in a large cohort of patients with telomere disease evaluated serially at the National Institutes of Health. One hundred twenty-one patients with known or suspected telomere disease were screened; 40 patients with liver involvement were included in the current study. Median follow-up was 2.4 years. Data were collected regarding their demographic information, laboratory analysis, imaging, and histopathology. Forty patients (40% of the cohort) with a median age of 42 years were found to have liver involvement. Liver enzyme elevation was cholestatic in pattern; 8 (21%) had drug-related enzyme elevations. The most common imaging finding was increased hepatic echogenicity on ultrasound in 39% (9) of patients, followed by hepatomegaly in 26% (6). Biopsies were infrequent because of risk associated with thrombocytopenia, but in 6 patients, there were varying findings: nodular regenerative hyperplasia, steatohepatitis, hemosiderosis, cholestasis, and cirrhosis with hepatic steatosis. Almost half the cohort had pulmonary diffusion abnormalities, and 25% died during the follow-up period. Conclusion: In patients with telomere disease, hepatic involvement is common and can present in diverse ways, including elevated liver enzymes as well as histopathologic and imaging abnormalities. Liver disease has important implications for morbidity and mortality in patients with telomere disease.
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